A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN.
Genes at loci that are involved in the development of WILMS TUMOR. Included are human WT1 at 11p13 and human WT2 (MTACR1) at 11p15.
Isoforms encoded by the WT1 Wilms tumor suppressor gene (GENES, WILMS TUMOR) and produced by alternative splicings. They are zinc finger-containing transcription factors involved in both transactivation and repression, and are critical for normal development and function of the urogenital tract.
Tumors or cancers of the KIDNEY.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A disorder of sex development characterized by UROGENITAL ABNORMALITIES; GONADAL DYSGENESIS; and WILMS TUMOR. It is caused by a mutation in the Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.
Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.
A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of WILMS TUMOR; ANIRIDIA; GENITOURINARY ABNORMALITIES; and INTELLECTUAL DISABILITY.
Molecular products metabolized and secreted by neoplastic tissue and characterized biochemically in cells or body fluids. They are indicators of tumor stage and grade as well as useful for monitoring responses to treatment and predicting recurrence. Many chemical groups are represented including hormones, antigens, amino and nucleic acids, enzymes, polyamines, and specific cell membrane proteins and lipids.
A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.
A cell line derived from cultured tumor cells.
The total amount (cell number, weight, size or volume) of tumor cells or tissue in the body.
Serum glycoprotein produced by activated MACROPHAGES and other mammalian MONONUCLEAR LEUKOCYTES. It has necrotizing activity against tumor cell lines and increases ability to reject tumor transplants. Also known as TNF-alpha, it is only 30% homologous to TNF-beta (LYMPHOTOXIN), but they share TNF RECEPTORS.
Excision of kidney.
A rare but highly lethal childhood tumor found almost exclusively in infants. Histopathologically, it resembles RHABDOMYOSARCOMA but the tumor cells are not of myogenic origin. Although it arises primarily in the kidney, it may be found in other parts of the body. The rhabdoid cytomorphology is believed to be the expression of a very primitive malignant cell. (From Holland et al., Cancer Medicine, 3d ed, p2210)
A sarcoma of young, often female, adults of the lower extremities and acral regions, intimately bound to tendons as circumscribed but unencapsulated melanin-bearing tumors of neuroectodermal origin. An ultrastructural finding simulates flattened and curved barrel staves, corresponding to the internal structures of premelanosomes. There is a 45-60% mortality in clear cell sarcoma. (Segen, Dictionary of Modern Medicine, 1992)
A congenital abnormality in which there is only a rudimentary iris. This is due to the failure of the optic cup to grow. Aniridia also occurs in a hereditary form, usually autosomal dominant.
A well-characterized neutral peptide believed to be secreted by the LIVER and to circulate in the BLOOD. It has growth-regulating, insulin-like and mitogenic activities. The growth factor has a major, but not absolute, dependence on SOMATOTROPIN. It is believed to be a major fetal growth factor in contrast to INSULIN-LIKE GROWTH FACTOR I, which is a major growth factor in adults.
A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.
Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female.
Proteins that are normally involved in holding cellular growth in check. Deficiencies or abnormalities in these proteins may lead to unregulated cell growth and tumor development.
The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)
Motifs in DNA- and RNA-binding proteins whose amino acids are folded into a single structural unit around a zinc atom. In the classic zinc finger, one zinc atom is bound to two cysteines and two histidines. In between the cysteines and histidines are 12 residues which form a DNA binding fingertip. By variations in the composition of the sequences in the fingertip and the number and spacing of tandem repeats of the motif, zinc fingers can form a large number of different sequence specific binding sites.
Experimentally induced new abnormal growth of TISSUES in animals to provide models for studying human neoplasms.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
DNA present in neoplastic tissue.
The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.
Methods which attempt to express in replicable terms the extent of the neoplasm in the patient.
A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182)
Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Nuclear phosphoprotein encoded by the p53 gene (GENES, P53) whose normal function is to control CELL PROLIFERATION and APOPTOSIS. A mutant or absent p53 protein has been found in LEUKEMIA; OSTEOSARCOMA; LUNG CANCER; and COLORECTAL CANCER.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in neoplastic tissue.
Loss of structural differentiation and useful function of neoplastic cells.
One of the Type II site-specific deoxyribonucleases (EC 3.1.21.4). It recognizes and cleaves the sequences C/CGG and GGC/C at the slash. HpaII is from Haemophilus parainfluenzae. Several isoschizomers have been identified. EC 3.1.21.-.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Tumors whose cells possess secretory granules and originate from the neuroectoderm, i.e., the cells of the ectoblast or epiblast that program the neuroendocrine system. Common properties across most neuroendocrine tumors include ectopic hormone production (often via APUD CELLS), the presence of tumor-associated antigens, and isozyme composition.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
RNA present in neoplastic tissue.
Proteins, glycoprotein, or lipoprotein moieties on surfaces of tumor cells that are usually identified by monoclonal antibodies. Many of these are of either embryonic or viral origin.
A paired box transcription factor that is essential for ORGANOGENESIS of the CENTRAL NERVOUS SYSTEM and KIDNEY.
Disordered formation of various types of leukocytes or an abnormal accumulation or deficiency of these cells.
Body organ that filters blood for the secretion of URINE and that regulates ion concentrations.
Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain.
New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.
Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
The milieu surrounding neoplasms consisting of cells, vessels, soluble factors, and molecules, that can influence and be influenced by, the neoplasm's growth.
Actual loss of portion of a chromosome.
All of the processes involved in increasing CELL NUMBER including CELL DIVISION.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.
The treatment of a disease or condition by several different means simultaneously or sequentially. Chemoimmunotherapy, RADIOIMMUNOTHERAPY, chemoradiotherapy, cryochemotherapy, and SALVAGE THERAPY are seen most frequently, but their combinations with each other and surgery are also used.
The local recurrence of a neoplasm following treatment. It arises from microscopic cells of the original neoplasm that have escaped therapeutic intervention and later become clinically visible at the original site.
Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.
A multi-functional catenin that participates in CELL ADHESION and nuclear signaling. Beta catenin binds CADHERINS and helps link their cytoplasmic tails to the ACTIN in the CYTOSKELETON via ALPHA CATENIN. It also serves as a transcriptional co-activator and downstream component of WNT PROTEIN-mediated SIGNAL TRANSDUCTION PATHWAYS.
Experimentally induced mammary neoplasms in animals to provide a model for studying human BREAST NEOPLASMS.
A characteristic symptom complex.
Addition of methyl groups to DNA. DNA methyltransferases (DNA methylases) perform this reaction using S-ADENOSYLMETHIONINE as the methyl group donor.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
An individual having different alleles at one or more loci regarding a specific character.
A pathologic process consisting of the proliferation of blood vessels in abnormal tissues or in abnormal positions.
The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.
DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.
The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.
The transfer of a neoplasm from one organ or part of the body to another remote from the primary site.

Surgery-related factors and local recurrence of Wilms tumor in National Wilms Tumor Study 4. (1/803)

OBJECTIVE: To assess the prognostic factors for local recurrence in Wilms tumor. SUMMARY BACKGROUND DATA: Current therapy for Wilms tumor has evolved through four studies of the National Wilms Tumor Study Group. As adverse prognostic factors were identified, treatment of children with Wilms tumor has been tailored based on these factors. Two-year relapse-free survival of children in the fourth study (NWTS-4) exceeded 91%. Factors once of prognostic import for local recurrence may lose their significance as more effective therapeutic regimens are devised. METHODS: Children evaluated were drawn from the records of NWTS-4. A total of 2482 randomized or followed patients were identified. Local recurrence, defined as recurrence in the original tumor bed, retroperitoneum, or within the abdominal cavity or pelvis, occurred in 100 children. Using a nested case-control study design, 182 matched controls were selected. Factors were analyzed for their association with local failure. Relative risks and 95% confidence intervals were calculated, taking into account the matching. RESULTS: The largest relative risks for local recurrence were observed in patients with stage III disease, those with unfavorable histology (especially diffuse anaplasia), and those reported to have tumor spillage during surgery. Multiple regression analysis adjusting for the combined effects of histology, lymph node involvement, and age revealed that tumor spillage remained significant. The relative risk of local recurrence from spill was largest in children with stage II disease. The absence of lymph node biopsy was also associated with an increased relative risk of recurrence, which was largest in children with stage I disease. The survival of children after local recurrence is poor, with an average survival rate at 2 years after relapse of 43%. Survival was dependent on initial stage: those who received more therapy before relapse had a worse prognosis. CONCLUSIONS: This study has demonstrated that surgical rupture of the tumor must be prevented by the surgeon, because spills produce an increased risk of local relapse. Both local and diffuse spills produce this risk. Stage II children with local spill appear to require more aggressive therapy than that used in NWTS-4. The continued critical importance of lymph node sampling in conjunction with nephrectomy for Wilms tumor is also established. Absence of lymph node biopsy may result in understaging and inadequate treatment of the child and may produce an increased risk of local recurrence.  (+info)

A possible contributory role of BK virus infection in neuroblastoma development. (2/803)

The tumor suppressor protein p53 is aberrantly localized to the cytoplasm of neuroblastoma cells, compromising the suppressor function of this protein. Such tumors are experimentally induced in transgenic mice expressing the large tumor (T) antigen of polyomaviruses. The oncogenic mechanisms of T antigen include complex formation with, and inactivation of, the tumor suppressor protein p53. Samples from 18 human neuroblastomas and five normal human adrenal glands were examined. BK virus DNA was detected in all neuroblastomas and none of five normal adrenal glands by PCR. Using DNA in situ hybridization, polyomaviral DNA was found in the tumor cells of 17 of 18 neuroblastomas, but in none of five adrenal medullas. Expression of the large T antigen was detected in the tumor cells of 16 of 18 neuroblastomas, but in none of the five adrenal medullas. By double immunostaining BK virus T antigen and p53 was colocalized to the cytoplasm of the tumor cells. Immunoprecipitation revealed binding between the two proteins. The presence and expression of BK virus in neuroblastomas, but not in normal adrenal medulla, and colocalization and binding to p53, suggest that this virus may play a contributory role in the development of this neoplasm.  (+info)

Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting. (3/803)

Genomic imprinting plays a fundamental role in cancer and some hereditary diseases, including Beckwith-Wiedemann syndrome (BWS), a disorder of prenatal overgrowth and predisposition to embryonal malignancies such as Wilms tumor. We have previously shown that the KVLQT1 gene on chromosomal band 11p15 is imprinted, with expression of the maternal allele, and that the maternal allele is disrupted in rare BWS patients with balanced germ-line chromosomal rearrangements. We now show that an antisense orientation transcript within KVLQT1, termed LIT1 (long QT intronic transcript 1) is expressed normally from the paternal allele, from which KVLQT1 transcription is silent, and that in the majority of patients with BWS, LIT1 is abnormally expressed from both the paternal and maternal alleles. Eight of sixteen informative BWS patients (50%) showed biallelic expression, i.e., loss of imprinting (LOI) of LIT1. Similarly, 21 of 36 (58%) BWS patients showed loss of maternal allele-specific methylation of a CpG island upstream of LIT1. Surprisingly, LOI of LIT1 was not linked to LOI of insulin-like growth factor II (IGF2), which was found in 2 of 10 (20%) BWS patients, even though LOI of IGF2 occurs frequently in Wilms and other tumors, and in some patients with BWS. Thus, LOI of LIT1 is the most common genetic alteration in BWS. We propose that 11p15 harbors two imprinted gene domains-a more centromeric domain including KVLQT1 and p57(KIP2), alterations in which are more common in BWS, and a more telomeric domain including IGF2, alterations in which are more common in cancer.  (+info)

Analysis of native WT1 protein from frozen human kidney and Wilms' tumors. (4/803)

The Wilms' tumor susceptibility gene, WT1, is altered in a subset of Wilms' tumors and encodes a transcription factor with four zinc fingers. Here we describe the isolation of native WT1 protein from frozen normal human kidney and Wilms' tumor samples. Through size exclusion chromatography and Western blot analysis we determined the elution pattern of WT1. The majority of WT1 from adult kidney and Wilms' tumor specimens was found to elute at a size of approximately 120 kDa, consistent with a WT1 homodimer and some WT1 protein was also found in a higher molecular weight complex. In 14 week fetal kidney the majority of the WT1 protein eluted at a size of 80 kDa, suggesting that at this developmental stage the WT1 protein is not present as a homodimer. The identity of complexing partners can now be studied using this approach.  (+info)

SV40LT highly mutates and immortalizes two fibroblast strains from patients with Wilms' tumor. (5/803)

In order to analyze in detail the process of immortalization of human cells, SV40LT was introduced into two chromosome 11p- fibroblast strains from Wilms' tumor patients. Both fibroblasts, hereafter referred to as CM1 and CM2, displayed the mutant phenotype in the crisis stage of cellular aging. In comparison to a control fibroblast, the density of the CM1 strain was abnormally high while the crisis period of the CM2 strain was abnormally long. The CM1 immortalization was 7 times greater than the control and the CM2 strain had the highest frequency of immortalization, 7 times greater than the CM1. These findings indicate that genes associated with chromosome 11p- may be involved in the immortalization of human cells. During their abnormal crisis periods, the cells derived from the patients with Wilms' tumor showed an extremely high frequency of chromosomal aberrations and mutations (6TGs --> 6TGr). These results indicate that when the growth-arrested cells from Wilms' patients are induced to grow with the introduction of SV40LT at the crisis stage they are highly mutable, resulting in their immortalization in vitro.  (+info)

LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids. (6/803)

Mammalian imprinted genes are frequently arranged in clusters on particular chromosomes. The imprinting cluster on human chromosome 11p15 is associated with Beckwith-Wiedemann syndrome (BWS) and a variety of human cancers. To clarify the genomic organization of the imprinted cluster, an extensive screen for differentially expressed transcripts in the 11p15 region was performed using monochromosomal hybrids with a paternal or maternal human chromosome 11. Here we describe an imprinted antisense transcript identified within the KvLQT1 locus, which is associated with multiple balanced chromosomal rearrangements in BWS and an additional breakpoint in embryonal rhabdoid tumors. The transcript, called LIT1 (long QT intronic transcript 1), was expressed preferentially from the paternal allele and produced in most human tissues. Methylation analysis revealed that an intronic CpG island was specifically methylated on the silent maternal allele and that four of 13 BWS patients showed complete loss of maternal methylation at the CpG island, suggesting that antisense regulation is involved in the development of human disease. In addition, we found that eight of eight Wilms' tumors exhibited normal imprinting of LIT1 and five of five tumors displayed normal differential methylation at the intronic CpG island. This contrasts with five of six tumors showing loss of imprinting of IGF2. We conclude that the imprinted gene domain at the KvLQT1 locus is discordantly regulated in cancer from the imprinted domain at the IGF2 locus. Thus, this positional approach using human monochromosomal hybrids could contribute to the efficient identification of imprinted loci in humans.  (+info)

Multipoint analysis of human chromosome 11p15/mouse distal chromosome 7: inclusion of H19/IGF2 in the minimal WT2 region, gene specificity of H19 silencing in Wilms' tumorigenesis and methylation hyper-dependence of H19 imprinting. (7/803)

WT2 is defined by maternal-specific loss of heterozygosity (LOH) on chromosome 11p15.5 in Wilms' tumors (WTs). The imprinted H19 gene, in this region, is silenced and hypermethylated in most WTs, and this is linked to pathological biallelic expression of IGF2. However, H19 and IGF2 lie within a larger imprinted domain, and the gene specificity of H19 epimutation has been a persistent question. To address this, we assessed LOH, gene expression and DNA methylation at multiple sites in and around the imprinted domain. LOH mapping showed that the entire domain, including IGF2/H19, is within the minimal WT2 region. Genes within the domain, including IPL/TSSC3/BWR1C, IMPT1/ORCTL2/BWR1A/TSSC5, KvLQT1/KCNA9 and TAPA1/CD81, as well as the zinc finger gene ZNF195/ZNFP104 near the centromeric border, were expressed persistently in many WTs. DNA hypermethylation was not detected with 5" upstream probes for IPL, IMPT1, KvLQT1 and ZNF195 in WTs or WT-associated kidneys. Fully developed WTs showed variable hypomethylation at an imprinted CpG island in a KvLQT1 intron, but this was only complete in the cases with LOH and was not observed in pre-neoplastic WT-associated kidneys with H19 epimutation. Analysis of the corresponding region of mouse chromosome 7 using methyltransferase-hypomorphic mice showed that the H19 imprint was fully erased, but that the allelic bias at Ipl, Impt1, p57 Kip2 and, to a lesser extent, Kvlqt1, persisted. Pre-existing massive allelic asymmetry for DNA methylation and hyper-dependence of transcription on methylation status may underlie the mechanism of gene-specific silencing of H19 in Wilms' tumorigenesis.  (+info)

The Wilms' tumor suppressor gene (wt1) product represses different functional classes of transcriptional activation domains. (8/803)

We have studied the ability of the wt1 tumor suppressor gene product to repress different classes of activation domains previously shown to stimulate the initiation and elongation steps of RNA polymerase II transcription in vivo. Repression assays revealed that WT1 represses all three classes of activation domains: Sp1 and CTF, which stimulate initiation (type I), human immunodeficiency virus type I Tat fused to a DNA-binding domain, which stimulates predominantly elongation (type IIA), and VP16, p53 and E2F1, which stimulate both initiation and elongation (type IIB). WT1 is capable of exerting its repression effect over a significant distance when positioned approximately 1700 bp from the core promoter. Deletion analysis of WT1 indicates that the responsible domain resides within the first 180 N-terminal amino acids of the protein. Nuclear run-ons analyzing the effects of WT1 on initiation of transcription demonstrate inhibition of this process. Our observations imply that WT1 can repress activators that stimulate initiation and/or elongation.  (+info)

Wilms tumor, also known as nephroblastoma, is a type of kidney cancer that primarily affects children. It occurs in the cells of the developing kidneys and is named after Dr. Max Wilms, who first described this type of tumor in 1899. Wilms tumor typically develops before the age of 5, with most cases occurring in children under the age of 3.

The medical definition of Wilms tumor is:

A malignant, embryonal kidney tumor originating from the metanephric blastema, which is a mass of undifferentiated cells in the developing kidney. Wilms tumor is characterized by its rapid growth and potential for spread (metastasis) to other parts of the body, particularly the lungs and liver. The tumor usually presents as a large, firm, and irregular mass in the abdomen, and it may be associated with various symptoms such as abdominal pain, swelling, or blood in the urine.

Wilms tumor is typically treated with a combination of surgery, chemotherapy, and radiation therapy. The prognosis for children with Wilms tumor has improved significantly over the past few decades due to advances in treatment methods and early detection.

Wilms tumor (WT) genes, also known as WT1 and WT2, are tumor suppressor genes that play crucial roles in the normal development of the kidneys. Mutations or alterations in these genes can lead to the development of Wilms tumor, which is a type of kidney cancer that primarily affects children.

WT1 gene is located on chromosome 11p13 and encodes a transcription factor that regulates the expression of various genes involved in kidney development. Mutations in WT1 can lead to Wilms tumor, as well as other genetic disorders such as Denys-Drash syndrome and Frasier syndrome.

WT2 gene is located on chromosome 11p15 and encodes a zinc finger transcription factor that also plays a role in kidney development. Mutations in WT2 have been associated with an increased risk of Wilms tumor, as well as other genetic disorders such as Beckwith-Wiedemann syndrome.

It's worth noting that not all Wilms tumors are caused by mutations in WT1 or WT2 genes, and that other genetic and environmental factors may also contribute to the development of this type of cancer.

Wilms' Tumor 1 (WT1) proteins are a group of transcription factors that play crucial roles in the development of the human body, particularly in the formation of the urinary and reproductive systems. The WT1 gene encodes these proteins, and mutations in this gene have been associated with several diseases, most notably Wilms' tumor, a type of kidney cancer in children.

WT1 proteins contain four domains: an N-terminal transcriptional activation domain, a zinc finger domain that binds to DNA, a nuclear localization signal, and a C-terminal transcriptional repression domain. These proteins regulate the expression of various target genes involved in cell growth, differentiation, and apoptosis (programmed cell death).

Abnormalities in WT1 protein function or expression have been linked to several developmental disorders, including Denys-Drash syndrome, Frasier syndrome, and Wilms' tumor. These conditions are characterized by genitourinary abnormalities, such as kidney dysplasia, ambiguous genitalia, and an increased risk of developing Wilms' tumor.

Kidney neoplasms refer to abnormal growths or tumors in the kidney tissues that can be benign (non-cancerous) or malignant (cancerous). These growths can originate from various types of kidney cells, including the renal tubules, glomeruli, and the renal pelvis.

Malignant kidney neoplasms are also known as kidney cancers, with renal cell carcinoma being the most common type. Benign kidney neoplasms include renal adenomas, oncocytomas, and angiomyolipomas. While benign neoplasms are generally not life-threatening, they can still cause problems if they grow large enough to compromise kidney function or if they undergo malignant transformation.

Early detection and appropriate management of kidney neoplasms are crucial for improving patient outcomes and overall prognosis. Regular medical check-ups, imaging studies, and urinalysis can help in the early identification of these growths, allowing for timely intervention and treatment.

Human chromosome pair 11 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and together they contain the genetic material that is inherited from both parents. They are located on the eleventh position in the standard karyotype, which is a visual representation of the 23 pairs of human chromosomes.

Chromosome 11 is one of the largest human chromosomes and contains an estimated 135 million base pairs. It contains approximately 1,400 genes that provide instructions for making proteins, as well as many non-coding RNA molecules that play a role in regulating gene expression.

Chromosome 11 is known to contain several important genes and genetic regions associated with various human diseases and conditions. For example, it contains the Wilms' tumor 1 (WT1) gene, which is associated with kidney cancer in children, and the neurofibromatosis type 1 (NF1) gene, which is associated with a genetic disorder that causes benign tumors to grow on nerves throughout the body. Additionally, chromosome 11 contains the region where the ABO blood group genes are located, which determine a person's blood type.

It's worth noting that human chromosomes come in pairs because they contain two copies of each gene, one inherited from the mother and one from the father. This redundancy allows for genetic diversity and provides a backup copy of essential genes, ensuring their proper function and maintaining the stability of the genome.

Denys-Drash Syndrome is a rare genetic disorder that affects the kidneys and genitalia. It is characterized by the development of Wilms' tumor, a type of kidney cancer, and abnormal genital development in males. The syndrome is caused by mutations in the WT1 gene, which plays a crucial role in the development of the kidneys and genitalia.

Individuals with Denys-Drash Syndrome typically have underdeveloped or absent male genitalia, and some may be born with ambiguous genitalia. They are also at an increased risk of developing Wilms' tumor, often during the first two years of life. In addition, many individuals with the syndrome develop kidney disease, which can progress to end-stage renal failure.

The management of Denys-Drash Syndrome typically involves close monitoring for the development of Wilms' tumor and kidney disease, as well as treatment with chemotherapy or radiation therapy if necessary. Kidney transplantation may also be required in cases of end-stage renal failure.

Tumor suppressor genes are a type of gene that helps to regulate and prevent cells from growing and dividing too rapidly or in an uncontrolled manner. They play a critical role in preventing the formation of tumors and cancer. When functioning properly, tumor suppressor genes help to repair damaged DNA, control the cell cycle, and trigger programmed cell death (apoptosis) when necessary. However, when these genes are mutated or altered, they can lose their ability to function correctly, leading to uncontrolled cell growth and the development of tumors. Examples of tumor suppressor genes include TP53, BRCA1, and BRCA2.

WAGR syndrome is a genetic disorder that stands for four main features: Wilms' tumor (a type of kidney cancer), aniridia (absence of the iris in the eye), genitourinary anomalies, and mental retardation. It is caused by a deletion of genetic material on chromosome 11, which includes the WAFT gene. This syndrome is rare and occurs in approximately 1 in 500,000 individuals.

The Wilms' tumor in WAGR syndrome typically develops during childhood, with about half of affected children developing this type of cancer by age 7. Aniridia is usually present at birth and can cause decreased vision or sensitivity to light. Genitourinary anomalies can include abnormalities of the reproductive and urinary systems, such as undescended testicles in males or structural abnormalities of the kidneys or urinary tract. Mental retardation ranges from mild to severe and is often accompanied by developmental delays and behavioral problems.

Early diagnosis and treatment of WAGR syndrome can improve outcomes for affected individuals. Treatment typically includes surveillance for Wilms' tumor, management of aniridia and genitourinary anomalies, and special education and therapy services for mental retardation.

Tumor markers are substances that can be found in the body and their presence can indicate the presence of certain types of cancer or other conditions. Biological tumor markers refer to those substances that are produced by cancer cells or by other cells in response to cancer or certain benign (non-cancerous) conditions. These markers can be found in various bodily fluids such as blood, urine, or tissue samples.

Examples of biological tumor markers include:

1. Proteins: Some tumor markers are proteins that are produced by cancer cells or by other cells in response to the presence of cancer. For example, prostate-specific antigen (PSA) is a protein produced by normal prostate cells and in higher amounts by prostate cancer cells.
2. Genetic material: Tumor markers can also include genetic material such as DNA, RNA, or microRNA that are shed by cancer cells into bodily fluids. For example, circulating tumor DNA (ctDNA) is genetic material from cancer cells that can be found in the bloodstream.
3. Metabolites: Tumor markers can also include metabolic products produced by cancer cells or by other cells in response to cancer. For example, lactate dehydrogenase (LDH) is an enzyme that is released into the bloodstream when cancer cells break down glucose for energy.

It's important to note that tumor markers are not specific to cancer and can be elevated in non-cancerous conditions as well. Therefore, they should not be used alone to diagnose cancer but rather as a tool in conjunction with other diagnostic tests and clinical evaluations.

Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth disorder that affects several parts of the body. It is characterized by an increased risk of developing certain tumors, especially during the first few years of life. The symptoms and features of BWS can vary widely among affected individuals.

The medical definition of Beckwith-Wiedemann syndrome includes the following major criteria:

1. Excessive growth before birth (macrosomia) or in infancy (infantile gigantism)
2. Enlargement of the tongue (macroglossia)
3. Abdominal wall defects, such as an omphalocele (protrusion of abdominal organs through the belly button) or a diastasis recti (separation of the abdominal muscles)
4. Enlargement of specific internal organs, like the kidneys, liver, or pancreas
5. A distinctive facial appearance, which may include ear creases or pits, wide-set eyes, and a prominent jaw

Additional findings in BWS can include:

1. Increased risk of developing embryonal tumors, such as Wilms tumor (a type of kidney cancer), hepatoblastoma (a liver cancer), and neuroblastoma (a nerve tissue cancer)
2. Hypoglycemia (low blood sugar) in infancy due to hyperinsulinism (overproduction of insulin)
3. Asymmetric growth, where one side of the body or a specific region is significantly larger than the other
4. Ear abnormalities, such as cupped ears or low-set ears
5. Developmental delays and learning disabilities in some cases

Beckwith-Wiedemann syndrome is caused by changes in the chromosome 11p15 region, which contains several genes that regulate growth and development. The most common cause of BWS is an epigenetic abnormality called paternal uniparental disomy (UPD), where both copies of this region come from the father instead of one copy from each parent. Other genetic mechanisms, such as mutations in specific genes or imprinting center defects, can also lead to BWS.

The diagnosis of Beckwith-Wiedemann syndrome is typically based on clinical findings and confirmed by molecular testing. Management includes regular monitoring for tumor development, controlling hypoglycemia, and addressing any other complications as needed. Surgical intervention may be required in cases of organ enlargement or structural abnormalities. Genetic counseling is recommended for affected individuals and their families to discuss the risks of recurrence and available reproductive options.

A cell line that is derived from tumor cells and has been adapted to grow in culture. These cell lines are often used in research to study the characteristics of cancer cells, including their growth patterns, genetic changes, and responses to various treatments. They can be established from many different types of tumors, such as carcinomas, sarcomas, and leukemias. Once established, these cell lines can be grown and maintained indefinitely in the laboratory, allowing researchers to conduct experiments and studies that would not be feasible using primary tumor cells. It is important to note that tumor cell lines may not always accurately represent the behavior of the original tumor, as they can undergo genetic changes during their time in culture.

Tumor burden is a term used to describe the total amount of cancer in the body. It can refer to the number of tumors, the size of the tumors, or the amount of cancer cells in the body. In research and clinical trials, tumor burden is often measured to assess the effectiveness of treatments or to monitor disease progression. High tumor burden can cause various symptoms and complications, depending on the type and location of the cancer. It can also affect a person's prognosis and treatment options.

Tumor Necrosis Factor-alpha (TNF-α) is a cytokine, a type of small signaling protein involved in immune response and inflammation. It is primarily produced by activated macrophages, although other cell types such as T-cells, natural killer cells, and mast cells can also produce it.

TNF-α plays a crucial role in the body's defense against infection and tissue injury by mediating inflammatory responses, activating immune cells, and inducing apoptosis (programmed cell death) in certain types of cells. It does this by binding to its receptors, TNFR1 and TNFR2, which are found on the surface of many cell types.

In addition to its role in the immune response, TNF-α has been implicated in the pathogenesis of several diseases, including autoimmune disorders such as rheumatoid arthritis, inflammatory bowel disease, and psoriasis, as well as cancer, where it can promote tumor growth and metastasis.

Therapeutic agents that target TNF-α, such as infliximab, adalimumab, and etanercept, have been developed to treat these conditions. However, these drugs can also increase the risk of infections and other side effects, so their use must be carefully monitored.

Nephrectomy is a surgical procedure in which all or part of a kidney is removed. It may be performed due to various reasons such as severe kidney damage, kidney cancer, or living donor transplantation. The type of nephrectomy depends on the reason for the surgery - a simple nephrectomy involves removing only the affected portion of the kidney, while a radical nephrectomy includes removal of the whole kidney along with its surrounding tissues like the adrenal gland and lymph nodes.

A rhabdoid tumor is a rare and aggressive type of cancer that typically develops in the kidneys of children, but can also occur in other areas of the body such as the brain, soft tissues, and lungs. These tumors are characterized by the presence of cells with a unique appearance, known as rhabdoid cells, which have large nuclei, prominent nucleoli, and eosinophilic inclusions.

Rhabdoid tumors can occur in both children and adults, but they are most commonly found in children under the age of 3. They are often resistant to conventional cancer treatments such as chemotherapy and radiation therapy, making them difficult to treat. The prognosis for patients with rhabdoid tumors is generally poor, with a high rate of recurrence and metastasis.

The exact cause of rhabdoid tumors is not known, but they are associated with mutations in the SMARCB1 or SMARCA4 genes, which are involved in regulating gene expression and maintaining genomic stability. These genetic changes can occur spontaneously or may be inherited from a parent.

Treatment for rhabdoid tumors typically involves a combination of surgery, chemotherapy, and radiation therapy. In some cases, stem cell transplantation or targeted therapies may also be used. Despite aggressive treatment, the prognosis for patients with rhabdoid tumors remains poor, with a five-year survival rate of less than 20%.

Sarcoma, clear cell, is a rare type of cancer that arises from certain types of connective tissue in the body. It is called "clear cell" because the cancer cells have a clear appearance when viewed under a microscope due to the presence of lipids or glycogen within the cytoplasm.

Clear cell sarcoma can occur in various parts of the body, but it most commonly affects the soft tissues of the extremities, such as the legs and arms. It is an aggressive cancer that tends to spread to other parts of the body, including the lungs, lymph nodes, and bones.

Clear cell sarcoma typically occurs in young adults, with a median age at diagnosis of around 30 years old. The exact cause of this type of sarcoma is not known, but it has been linked to genetic mutations involving the EWSR1 gene. Treatment for clear cell sarcoma usually involves surgery to remove the tumor, followed by radiation therapy and/or chemotherapy to kill any remaining cancer cells. Despite treatment, the prognosis for patients with clear cell sarcoma is generally poor, with a five-year survival rate of around 50%.

Aniridia is a genetic condition that affects the development of the eye. The most notable feature of aniridia is the partial or complete absence of the colored part of the eye, called the iris. This gives the appearance of a larger than normal pupil and can lead to sensitivity to light (photophobia). Aniridia is usually present at birth and can affect one or both eyes.

The condition is caused by mutations in the PAX6 gene, which plays a crucial role in the early development of the eye. In addition to the iris abnormalities, people with aniridia may also have other eye problems such as cloudy corneas, cataracts, glaucoma, and degeneration of the retina. These complications can lead to decreased vision or blindness if not properly managed.

Aniridia is typically inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the condition if one parent has it. However, approximately two-thirds of aniridia cases are sporadic, occurring due to new mutations in the PAX6 gene and not inherited from a parent.

It is essential to monitor and manage aniridia-related complications through regular eye examinations and appropriate treatments to preserve vision as much as possible. Some individuals with aniridia may also benefit from low-vision aids, such as magnifiers or telescopic lenses, to help maximize their remaining visual function.

Insulin-like Growth Factor II (IGF-II) is a growth factor that is structurally and functionally similar to insulin. It is a single-chain polypeptide hormone, primarily produced by the liver under the regulation of growth hormone. IGF-II plays an essential role in fetal growth and development, and continues to have important functions in postnatal life, including promoting cell growth, proliferation, and differentiation in various tissues.

IGF-II binds to and activates the IGF-I receptor and the insulin receptor, leading to intracellular signaling cascades that regulate metabolic and mitogenic responses. Dysregulation of IGF-II expression and signaling has been implicated in several pathological conditions, such as cancer, growth disorders, and diabetes.

It is important to note that IGF-II should not be confused with Insulin-like Growth Factor I (IGF-I), which is another hormone with structural and functional similarities to insulin but has distinct roles in growth and development.

I'm sorry for any confusion, but "Frasier Syndrome" is not a recognized medical condition or syndrome in the standard medical literature. It seems like it might be a term that is specific to a certain context or fictional work. In popular culture, "Frasier" is a television show about a character named Frasier Crane, and it's possible that "Frasier Syndrome" could refer to something within the realm of that fiction. However, without more specific information about where you encountered this term, I cannot provide an accurate definition.

Urogenital abnormalities refer to structural or functional anomalies that affect the urinary and genital systems. These two systems are closely linked during embryonic development, and sometimes they may not develop properly, leading to various types of congenital defects. Urogenital abnormalities can range from minor issues like a bifid scrotum (a condition where the scrotum is split into two parts) to more severe problems such as bladder exstrophy (where the bladder develops outside the body).

These conditions may affect urination, reproduction, and sexual function. They can also increase the risk of infections and other complications. Urogenital abnormalities can be diagnosed through physical examination, imaging tests, or genetic testing. Treatment options depend on the specific condition but may include surgery, medication, or lifestyle changes.

Tumor suppressor proteins are a type of regulatory protein that helps control the cell cycle and prevent cells from dividing and growing in an uncontrolled manner. They work to inhibit tumor growth by preventing the formation of tumors or slowing down their progression. These proteins can repair damaged DNA, regulate gene expression, and initiate programmed cell death (apoptosis) if the damage is too severe for repair.

Mutations in tumor suppressor genes, which provide the code for these proteins, can lead to a decrease or loss of function in the resulting protein. This can result in uncontrolled cell growth and division, leading to the formation of tumors and cancer. Examples of tumor suppressor proteins include p53, Rb (retinoblastoma), and BRCA1/2.

Genomic imprinting is a epigenetic process that leads to the differential expression of genes depending on their parental origin. It involves the methylation of certain CpG sites in the DNA, which results in the silencing of one of the two copies of a gene, either the maternal or paternal allele. This means that only one copy of the gene is active and expressed, while the other is silent.

This phenomenon is critical for normal development and growth, and it plays a role in the regulation of genes involved in growth and behavior. Genomic imprinting is also associated with certain genetic disorders, such as Prader-Willi and Angelman syndromes, which occur when there are errors in the imprinting process that lead to the absence or abnormal expression of certain genes.

It's important to note that genomic imprinting is a complex and highly regulated process that is not yet fully understood. Research in this area continues to provide new insights into the mechanisms underlying gene regulation and their impact on human health and disease.

Zinc fingers are a type of protein structural motif involved in specific DNA binding and, by extension, in the regulation of gene expression. They are so named because of their characteristic "finger-like" shape that is formed when a zinc ion binds to the amino acids within the protein. This structure allows the protein to interact with and recognize specific DNA sequences, thereby playing a crucial role in various biological processes such as transcription, repair, and recombination of genetic material.

Experimental neoplasms refer to abnormal growths or tumors that are induced and studied in a controlled laboratory setting, typically in animals or cell cultures. These studies are conducted to understand the fundamental mechanisms of cancer development, progression, and potential treatment strategies. By manipulating various factors such as genetic mutations, environmental exposures, and pharmacological interventions, researchers can gain valuable insights into the complex processes underlying neoplasm formation and identify novel targets for cancer therapy. It is important to note that experimental neoplasms may not always accurately represent human cancers, and further research is needed to translate these findings into clinically relevant applications.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

The term "DNA, neoplasm" is not a standard medical term or concept. DNA refers to deoxyribonucleic acid, which is the genetic material present in the cells of living organisms. A neoplasm, on the other hand, is a tumor or growth of abnormal tissue that can be benign (non-cancerous) or malignant (cancerous).

In some contexts, "DNA, neoplasm" may refer to genetic alterations found in cancer cells. These genetic changes can include mutations, amplifications, deletions, or rearrangements of DNA sequences that contribute to the development and progression of cancer. Identifying these genetic abnormalities can help doctors diagnose and treat certain types of cancer more effectively.

However, it's important to note that "DNA, neoplasm" is not a term that would typically be used in medical reports or research papers without further clarification. If you have any specific questions about DNA changes in cancer cells or neoplasms, I would recommend consulting with a healthcare professional or conducting further research on the topic.

Loss of Heterozygosity (LOH) is a term used in genetics to describe the loss of one copy of a gene or a segment of a chromosome, where there was previously a pair of different genes or chromosomal segments (heterozygous). This can occur due to various genetic events such as mutation, deletion, or mitotic recombination.

LOH is often associated with the development of cancer, as it can lead to the loss of tumor suppressor genes, which normally help to regulate cell growth and division. When both copies of a tumor suppressor gene are lost or inactivated, it can result in uncontrolled cell growth and the formation of a tumor.

In medical terms, LOH is used as a biomarker for cancer susceptibility, progression, and prognosis. It can also be used to identify individuals who may be at increased risk for certain types of cancer, or to monitor patients for signs of cancer recurrence.

Neoplasm staging is a systematic process used in medicine to describe the extent of spread of a cancer, including the size and location of the original (primary) tumor and whether it has metastasized (spread) to other parts of the body. The most widely accepted system for this purpose is the TNM classification system developed by the American Joint Committee on Cancer (AJCC) and the Union for International Cancer Control (UICC).

In this system, T stands for tumor, and it describes the size and extent of the primary tumor. N stands for nodes, and it indicates whether the cancer has spread to nearby lymph nodes. M stands for metastasis, and it shows whether the cancer has spread to distant parts of the body.

Each letter is followed by a number that provides more details about the extent of the disease. For example, a T1N0M0 cancer means that the primary tumor is small and has not spread to nearby lymph nodes or distant sites. The higher the numbers, the more advanced the cancer.

Staging helps doctors determine the most appropriate treatment for each patient and estimate the patient's prognosis. It is an essential tool for communication among members of the healthcare team and for comparing outcomes of treatments in clinical trials.

A carcinoid tumor is a type of slow-growing neuroendocrine tumor that usually originates in the digestive tract, particularly in the small intestine. These tumors can also arise in other areas such as the lungs, appendix, and rarely in other organs. Carcinoid tumors develop from cells of the diffuse endocrine system (also known as the neuroendocrine system) that are capable of producing hormones or biologically active amines.

Carcinoid tumors can produce and release various hormones and bioactive substances, such as serotonin, histamine, bradykinins, prostaglandins, and tachykinins, which can lead to a variety of symptoms. The most common syndrome associated with carcinoid tumors is the carcinoid syndrome, characterized by flushing, diarrhea, abdominal cramping, and wheezing or difficulty breathing.

Carcinoid tumors are typically classified as functional or nonfunctional based on whether they produce and secrete hormones that cause symptoms. Functional carcinoid tumors account for approximately 30% of cases and can lead to the development of carcinoid syndrome, while nonfunctional tumors do not produce significant amounts of hormones and are often asymptomatic until they grow large enough to cause local or distant complications.

Treatment options for carcinoid tumors depend on the location, size, and extent of the tumor, as well as whether it is functional or nonfunctional. Treatment may include surgery, medications (such as somatostatin analogs, chemotherapy, or targeted therapies), and radiation therapy. Regular follow-up with imaging studies and biochemical tests is essential to monitor for recurrence and assess treatment response.

A neoplasm is a tumor or growth that is formed by an abnormal and excessive proliferation of cells, which can be benign or malignant. Neoplasm proteins are therefore any proteins that are expressed or produced in these neoplastic cells. These proteins can play various roles in the development, progression, and maintenance of neoplasms.

Some neoplasm proteins may contribute to the uncontrolled cell growth and division seen in cancer, such as oncogenic proteins that promote cell cycle progression or inhibit apoptosis (programmed cell death). Others may help the neoplastic cells evade the immune system, allowing them to proliferate undetected. Still others may be involved in angiogenesis, the formation of new blood vessels that supply the tumor with nutrients and oxygen.

Neoplasm proteins can also serve as biomarkers for cancer diagnosis, prognosis, or treatment response. For example, the presence or level of certain neoplasm proteins in biological samples such as blood or tissue may indicate the presence of a specific type of cancer, help predict the likelihood of cancer recurrence, or suggest whether a particular therapy will be effective.

Overall, understanding the roles and behaviors of neoplasm proteins can provide valuable insights into the biology of cancer and inform the development of new diagnostic and therapeutic strategies.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

Tumor suppressor protein p53, also known as p53 or tumor protein p53, is a nuclear phosphoprotein that plays a crucial role in preventing cancer development and maintaining genomic stability. It does so by regulating the cell cycle and acting as a transcription factor for various genes involved in apoptosis (programmed cell death), DNA repair, and cell senescence (permanent cell growth arrest).

In response to cellular stress, such as DNA damage or oncogene activation, p53 becomes activated and accumulates in the nucleus. Activated p53 can then bind to specific DNA sequences and promote the transcription of target genes that help prevent the proliferation of potentially cancerous cells. These targets include genes involved in cell cycle arrest (e.g., CDKN1A/p21), apoptosis (e.g., BAX, PUMA), and DNA repair (e.g., GADD45).

Mutations in the TP53 gene, which encodes p53, are among the most common genetic alterations found in human cancers. These mutations often lead to a loss or reduction of p53's tumor suppressive functions, allowing cancer cells to proliferate uncontrollably and evade apoptosis. As a result, p53 has been referred to as "the guardian of the genome" due to its essential role in preventing tumorigenesis.

Neoplastic gene expression regulation refers to the processes that control the production of proteins and other molecules from genes in neoplastic cells, or cells that are part of a tumor or cancer. In a normal cell, gene expression is tightly regulated to ensure that the right genes are turned on or off at the right time. However, in cancer cells, this regulation can be disrupted, leading to the overexpression or underexpression of certain genes.

Neoplastic gene expression regulation can be affected by a variety of factors, including genetic mutations, epigenetic changes, and signals from the tumor microenvironment. These changes can lead to the activation of oncogenes (genes that promote cancer growth and development) or the inactivation of tumor suppressor genes (genes that prevent cancer).

Understanding neoplastic gene expression regulation is important for developing new therapies for cancer, as targeting specific genes or pathways involved in this process can help to inhibit cancer growth and progression.

Anaplasia is a term used in pathology to describe the loss of differentiation and cellular organization in malignant tumors. It is characterized by the presence of large, pleomorphic cells with high mitotic activity, absence of mature tissue architecture, and lack of functional specialization. Anaplastic tumors are often aggressive and have a poor prognosis due to their rapid growth and tendency to metastasize. The term "anaplasia" is derived from the Greek words "ana," meaning "back" or "against," and "plasis," meaning "formation" or "molding."

Deoxyribonuclease HpaII, also known as HpaII endonuclease or simply HpaII, is an enzyme that cleaves double-stranded DNA at the recognition site 5'-CCGG-3'. It is a type of restriction endonuclease that is isolated from the bacterium Haemophilus parainfluenzae. The 'H' and the 'pa' in HpaII stand for Haemophilus parainfluenzae, and the Roman numeral II indicates that it was the second such enzyme to be discovered from this bacterial species.

The HpaII enzyme cuts the DNA strand between the two Gs in the recognition site, leaving a 5'-overhang of two unpaired cytosines on the 3'-end of each cleaved strand. This specificity makes it useful for various molecular biology techniques, such as genetic fingerprinting, genome mapping, and DNA sequencing.

It is worth noting that HpaII is sensitive to methylation at the internal cytosine residue within its recognition site. If the inner cytosine in the 5'-CCGG-3' sequence is methylated (i.e., 5-methylcytosine), HpaII will not cut the DNA at that site, which can be exploited for epigenetic studies and DNA methylation analysis.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

Neuroendocrine tumors (NETs) are a diverse group of neoplasms that arise from cells of the neuroendocrine system, which is composed of dispersed neuroendocrine cells throughout the body, often in close association with nerves and blood vessels. These cells have the ability to produce and secrete hormones or hormone-like substances in response to various stimuli. NETs can occur in a variety of organs, including the lungs, pancreas, small intestine, colon, rectum, stomach, and thyroid gland, as well as in some less common sites such as the thymus, adrenal glands, and nervous system.

NETs can be functional or nonfunctional, depending on whether they produce and secrete hormones or hormone-like substances that cause specific symptoms related to hormonal excess. Functional NETs may give rise to a variety of clinical syndromes, such as carcinoid syndrome, Zollinger-Ellison syndrome, pancreatic neuroendocrine tumor syndrome (also known as Verner-Morrison or WDHA syndrome), and others. Nonfunctional NETs are more likely to present with symptoms related to the size and location of the tumor, such as abdominal pain, intestinal obstruction, or bleeding.

The diagnosis of NETs typically involves a combination of imaging studies, biochemical tests (e.g., measurement of serum hormone levels), and histopathological examination of tissue samples obtained through biopsy or surgical resection. Treatment options depend on the type, location, stage, and grade of the tumor, as well as the presence or absence of functional symptoms. They may include surgery, radiation therapy, chemotherapy, targeted therapy, and/or peptide receptor radionuclide therapy (PRRT).

Messenger RNA (mRNA) is a type of RNA (ribonucleic acid) that carries genetic information copied from DNA in the form of a series of three-base code "words," each of which specifies a particular amino acid. This information is used by the cell's machinery to construct proteins, a process known as translation. After being transcribed from DNA, mRNA travels out of the nucleus to the ribosomes in the cytoplasm where protein synthesis occurs. Once the protein has been synthesized, the mRNA may be degraded and recycled. Post-transcriptional modifications can also occur to mRNA, such as alternative splicing and addition of a 5' cap and a poly(A) tail, which can affect its stability, localization, and translation efficiency.

RNA (Ribonucleic acid) is a single-stranded molecule similar in structure to DNA, involved in the process of protein synthesis in the cell. It acts as a messenger carrying genetic information from DNA to the ribosomes, where proteins are produced.

A neoplasm, on the other hand, is an abnormal growth of cells, which can be benign or malignant. Benign neoplasms are not cancerous and do not invade nearby tissues or spread to other parts of the body. Malignant neoplasms, however, are cancerous and have the potential to invade surrounding tissues and spread to distant sites in the body through a process called metastasis.

Therefore, an 'RNA neoplasm' is not a recognized medical term as RNA is not a type of growth or tumor. However, there are certain types of cancer-causing viruses known as oncoviruses that contain RNA as their genetic material and can cause neoplasms. For example, human T-cell leukemia virus (HTLV-1) and hepatitis C virus (HCV) are RNA viruses that can cause certain types of cancer in humans.

Neoplasm antigens, also known as tumor antigens, are substances that are produced by cancer cells (neoplasms) and can stimulate an immune response. These antigens can be proteins, carbohydrates, or other molecules that are either unique to the cancer cells or are overexpressed or mutated versions of normal cellular proteins.

Neoplasm antigens can be classified into two main categories: tumor-specific antigens (TSAs) and tumor-associated antigens (TAAs). TSAs are unique to cancer cells and are not expressed by normal cells, while TAAs are present at low levels in normal cells but are overexpressed or altered in cancer cells.

TSAs can be further divided into viral antigens and mutated antigens. Viral antigens are produced when cancer is caused by a virus, such as human papillomavirus (HPV) in cervical cancer. Mutated antigens are the result of genetic mutations that occur during cancer development and are unique to each patient's tumor.

Neoplasm antigens play an important role in the immune response against cancer. They can be recognized by the immune system, leading to the activation of immune cells such as T cells and natural killer (NK) cells, which can then attack and destroy cancer cells. However, cancer cells often develop mechanisms to evade the immune response, allowing them to continue growing and spreading.

Understanding neoplasm antigens is important for the development of cancer immunotherapies, which aim to enhance the body's natural immune response against cancer. These therapies include checkpoint inhibitors, which block proteins that inhibit T cell activation, and therapeutic vaccines, which stimulate an immune response against specific tumor antigens.

The PAX2 transcription factor is a protein that plays a crucial role in the development and function of the kidneys and urinary system. It belongs to the PAX family of transcription factors, which are characterized by a highly conserved DNA-binding domain called the paired box. The PAX2 protein helps regulate gene expression during embryonic development, including genes involved in the formation of the nephrons, the functional units of the kidneys.

PAX2 is expressed in the intermediate mesoderm, which gives rise to the kidneys and other organs of the urinary system. It helps to specify the fate of these cells and promote their differentiation into mature kidney structures. In addition to its role in kidney development, PAX2 has also been implicated in the development of the eye, ear, and central nervous system.

Mutations in the PAX2 gene have been associated with various genetic disorders, including renal coloboma syndrome, which is characterized by kidney abnormalities and eye defects. Proper regulation of PAX2 expression is essential for normal development and function of the urinary system and other organs.

Leukocyte disorders, also known as white blood cell disorders, refer to a group of conditions that affect the production, function, or number of leukocytes (white blood cells) in the body. Leukocytes play a crucial role in protecting the body against infection and disease. Therefore, disorders that affect these cells can significantly impact an individual's immune system and overall health.

There are several types of leukocyte disorders, including:

1. Leukopenia: A condition characterized by abnormally low levels of white blood cells in the blood. This can increase the risk of infection.
2. Leukocytosis: A condition characterized by an elevated number of white blood cells in the blood. While this can be a normal response to infection or inflammation, it can also indicate an underlying medical condition such as leukemia.
3. Neutropenia: A condition characterized by abnormally low levels of neutrophils, a type of white blood cell that helps fight bacterial infections. This can increase the risk of infection.
4. Neutrophilia: A condition characterized by an elevated number of neutrophils in the blood. This can be a normal response to infection or inflammation, but it can also indicate an underlying medical condition such as an acute bacterial infection.
5. Lymphocytosis: A condition characterized by an elevated number of lymphocytes, a type of white blood cell that helps fight viral infections and cancer cells. This can be a normal response to infection or vaccination, but it can also indicate an underlying medical condition such as chronic lymphocytic leukemia.
6. Lymphopenia: A condition characterized by abnormally low levels of lymphocytes in the blood. This can increase the risk of infection and indicate an underlying medical condition such as HIV/AIDS or autoimmune disorders.
7. Monocytosis: A condition characterized by an elevated number of monocytes, a type of white blood cell that helps fight chronic infections and cancer cells. This can be a normal response to infection or inflammation, but it can also indicate an underlying medical condition such as chronic inflammatory diseases.
8. Monocytopenia: A condition characterized by abnormally low levels of monocytes in the blood. This can increase the risk of infection and indicate an underlying medical condition such as bone marrow disorders or autoimmune diseases.

These conditions can be caused by various factors, including infections, inflammation, cancer, autoimmune disorders, medications, and genetic disorders. Proper diagnosis and treatment require a thorough evaluation of the patient's medical history, physical examination, laboratory tests, and imaging studies.

A kidney, in medical terms, is one of two bean-shaped organs located in the lower back region of the body. They are essential for maintaining homeostasis within the body by performing several crucial functions such as:

1. Regulation of water and electrolyte balance: Kidneys help regulate the amount of water and various electrolytes like sodium, potassium, and calcium in the bloodstream to maintain a stable internal environment.

2. Excretion of waste products: They filter waste products from the blood, including urea (a byproduct of protein metabolism), creatinine (a breakdown product of muscle tissue), and other harmful substances that result from normal cellular functions or external sources like medications and toxins.

3. Endocrine function: Kidneys produce several hormones with important roles in the body, such as erythropoietin (stimulates red blood cell production), renin (regulates blood pressure), and calcitriol (activated form of vitamin D that helps regulate calcium homeostasis).

4. pH balance regulation: Kidneys maintain the proper acid-base balance in the body by excreting either hydrogen ions or bicarbonate ions, depending on whether the blood is too acidic or too alkaline.

5. Blood pressure control: The kidneys play a significant role in regulating blood pressure through the renin-angiotensin-aldosterone system (RAAS), which constricts blood vessels and promotes sodium and water retention to increase blood volume and, consequently, blood pressure.

Anatomically, each kidney is approximately 10-12 cm long, 5-7 cm wide, and 3 cm thick, with a weight of about 120-170 grams. They are surrounded by a protective layer of fat and connected to the urinary system through the renal pelvis, ureters, bladder, and urethra.

Brain neoplasms, also known as brain tumors, are abnormal growths of cells within the brain. These growths can be benign (non-cancerous) or malignant (cancerous). Benign brain tumors typically grow slowly and do not spread to other parts of the body. However, they can still cause serious problems if they press on sensitive areas of the brain. Malignant brain tumors, on the other hand, are cancerous and can grow quickly, invading surrounding brain tissue and spreading to other parts of the brain or spinal cord.

Brain neoplasms can arise from various types of cells within the brain, including glial cells (which provide support and insulation for nerve cells), neurons (nerve cells that transmit signals in the brain), and meninges (the membranes that cover the brain and spinal cord). They can also result from the spread of cancer cells from other parts of the body, known as metastatic brain tumors.

Symptoms of brain neoplasms may vary depending on their size, location, and growth rate. Common symptoms include headaches, seizures, weakness or paralysis in the limbs, difficulty with balance and coordination, changes in speech or vision, confusion, memory loss, and changes in behavior or personality.

Treatment for brain neoplasms depends on several factors, including the type, size, location, and grade of the tumor, as well as the patient's age and overall health. Treatment options may include surgery, radiation therapy, chemotherapy, targeted therapy, or a combination of these approaches. Regular follow-up care is essential to monitor for recurrence and manage any long-term effects of treatment.

Neoplasms are abnormal growths of cells or tissues in the body that serve no physiological function. They can be benign (non-cancerous) or malignant (cancerous). Benign neoplasms are typically slow growing and do not spread to other parts of the body, while malignant neoplasms are aggressive, invasive, and can metastasize to distant sites.

Neoplasms occur when there is a dysregulation in the normal process of cell division and differentiation, leading to uncontrolled growth and accumulation of cells. This can result from genetic mutations or other factors such as viral infections, environmental exposures, or hormonal imbalances.

Neoplasms can develop in any organ or tissue of the body and can cause various symptoms depending on their size, location, and type. Treatment options for neoplasms include surgery, radiation therapy, chemotherapy, immunotherapy, and targeted therapy, among others.

Immunohistochemistry (IHC) is a technique used in pathology and laboratory medicine to identify specific proteins or antigens in tissue sections. It combines the principles of immunology and histology to detect the presence and location of these target molecules within cells and tissues. This technique utilizes antibodies that are specific to the protein or antigen of interest, which are then tagged with a detection system such as a chromogen or fluorophore. The stained tissue sections can be examined under a microscope, allowing for the visualization and analysis of the distribution and expression patterns of the target molecule in the context of the tissue architecture. Immunohistochemistry is widely used in diagnostic pathology to help identify various diseases, including cancer, infectious diseases, and immune-mediated disorders.

The tumor microenvironment (TME) is a complex and dynamic setting that consists of various cellular and non-cellular components, which interact with each other and contribute to the growth, progression, and dissemination of cancer. The TME includes:

1. Cancer cells: These are the malignant cells that grow uncontrollably, invade surrounding tissues, and can spread to distant organs.
2. Stromal cells: These are non-cancerous cells present within the tumor, including fibroblasts, immune cells, adipocytes, and endothelial cells. They play a crucial role in supporting the growth of cancer cells by providing structural and nutritional support, modulating the immune response, and promoting angiogenesis (the formation of new blood vessels).
3. Extracellular matrix (ECM): This is the non-cellular component of the TME, consisting of a network of proteins, glycoproteins, and polysaccharides that provide structural support and regulate cell behavior. The ECM can be remodeled by both cancer and stromal cells, leading to changes in tissue stiffness, architecture, and signaling pathways.
4. Soluble factors: These include various cytokines, chemokines, growth factors, and metabolites that are secreted by both cancer and stromal cells. They can act as signaling molecules, influencing cell behavior, survival, proliferation, and migration.
5. Blood vessels: The formation of new blood vessels (angiogenesis) within the TME is essential for providing nutrients and oxygen to support the growth of cancer cells. The vasculature in the TME is often disorganized, leading to hypoxic (low oxygen) regions and altered drug delivery.
6. Immune cells: The TME contains various immune cell populations, such as tumor-associated macrophages (TAMs), dendritic cells, natural killer (NK) cells, and different subsets of T lymphocytes. These cells can either promote or inhibit the growth and progression of cancer, depending on their phenotype and activation status.
7. Niche: A specific microenvironment within the TME that supports the survival and function of cancer stem cells (CSCs) or tumor-initiating cells. The niche is often characterized by unique cellular components, signaling molecules, and physical properties that contribute to the maintenance and propagation of CSCs.

Understanding the complex interactions between these various components in the TME can provide valuable insights into cancer biology and help inform the development of novel therapeutic strategies.

A chromosome deletion is a type of genetic abnormality that occurs when a portion of a chromosome is missing or deleted. Chromosomes are thread-like structures located in the nucleus of cells that contain our genetic material, which is organized into genes.

Chromosome deletions can occur spontaneously during the formation of reproductive cells (eggs or sperm) or can be inherited from a parent. They can affect any chromosome and can vary in size, from a small segment to a large portion of the chromosome.

The severity of the symptoms associated with a chromosome deletion depends on the size and location of the deleted segment. In some cases, the deletion may be so small that it does not cause any noticeable symptoms. However, larger deletions can lead to developmental delays, intellectual disabilities, physical abnormalities, and various medical conditions.

Chromosome deletions are typically detected through a genetic test called karyotyping, which involves analyzing the number and structure of an individual's chromosomes. Other more precise tests, such as fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA), may also be used to confirm the diagnosis and identify the specific location and size of the deletion.

Cell proliferation is the process by which cells increase in number, typically through the process of cell division. In the context of biology and medicine, it refers to the reproduction of cells that makes up living tissue, allowing growth, maintenance, and repair. It involves several stages including the transition from a phase of quiescence (G0 phase) to an active phase (G1 phase), DNA replication in the S phase, and mitosis or M phase, where the cell divides into two daughter cells.

Abnormal or uncontrolled cell proliferation is a characteristic feature of many diseases, including cancer, where deregulated cell cycle control leads to excessive and unregulated growth of cells, forming tumors that can invade surrounding tissues and metastasize to distant sites in the body.

DNA-binding proteins are a type of protein that have the ability to bind to DNA (deoxyribonucleic acid), the genetic material of organisms. These proteins play crucial roles in various biological processes, such as regulation of gene expression, DNA replication, repair and recombination.

The binding of DNA-binding proteins to specific DNA sequences is mediated by non-covalent interactions, including electrostatic, hydrogen bonding, and van der Waals forces. The specificity of binding is determined by the recognition of particular nucleotide sequences or structural features of the DNA molecule.

DNA-binding proteins can be classified into several categories based on their structure and function, such as transcription factors, histones, and restriction enzymes. Transcription factors are a major class of DNA-binding proteins that regulate gene expression by binding to specific DNA sequences in the promoter region of genes and recruiting other proteins to modulate transcription. Histones are DNA-binding proteins that package DNA into nucleosomes, the basic unit of chromatin structure. Restriction enzymes are DNA-binding proteins that recognize and cleave specific DNA sequences, and are widely used in molecular biology research and biotechnology applications.

Transcription factors are proteins that play a crucial role in regulating gene expression by controlling the transcription of DNA to messenger RNA (mRNA). They function by binding to specific DNA sequences, known as response elements, located in the promoter region or enhancer regions of target genes. This binding can either activate or repress the initiation of transcription, depending on the properties and interactions of the particular transcription factor. Transcription factors often act as part of a complex network of regulatory proteins that determine the precise spatiotemporal patterns of gene expression during development, differentiation, and homeostasis in an organism.

Reverse Transcriptase Polymerase Chain Reaction (RT-PCR) is a laboratory technique used in molecular biology to amplify and detect specific DNA sequences. This technique is particularly useful for the detection and quantification of RNA viruses, as well as for the analysis of gene expression.

The process involves two main steps: reverse transcription and polymerase chain reaction (PCR). In the first step, reverse transcriptase enzyme is used to convert RNA into complementary DNA (cDNA) by reading the template provided by the RNA molecule. This cDNA then serves as a template for the PCR amplification step.

In the second step, the PCR reaction uses two primers that flank the target DNA sequence and a thermostable polymerase enzyme to repeatedly copy the targeted cDNA sequence. The reaction mixture is heated and cooled in cycles, allowing the primers to anneal to the template, and the polymerase to extend the new strand. This results in exponential amplification of the target DNA sequence, making it possible to detect even small amounts of RNA or cDNA.

RT-PCR is a sensitive and specific technique that has many applications in medical research and diagnostics, including the detection of viruses such as HIV, hepatitis C virus, and SARS-CoV-2 (the virus that causes COVID-19). It can also be used to study gene expression, identify genetic mutations, and diagnose genetic disorders.

Combined modality therapy (CMT) is a medical treatment approach that utilizes more than one method or type of therapy simultaneously or in close succession, with the goal of enhancing the overall effectiveness of the treatment. In the context of cancer care, CMT often refers to the combination of two or more primary treatment modalities, such as surgery, radiation therapy, and systemic therapies (chemotherapy, immunotherapy, targeted therapy, etc.).

The rationale behind using combined modality therapy is that each treatment method can target cancer cells in different ways, potentially increasing the likelihood of eliminating all cancer cells and reducing the risk of recurrence. The specific combination and sequence of treatments will depend on various factors, including the type and stage of cancer, patient's overall health, and individual preferences.

For example, a common CMT approach for locally advanced rectal cancer may involve preoperative (neoadjuvant) chemoradiation therapy, followed by surgery to remove the tumor, and then postoperative (adjuvant) chemotherapy. This combined approach allows for the reduction of the tumor size before surgery, increases the likelihood of complete tumor removal, and targets any remaining microscopic cancer cells with systemic chemotherapy.

It is essential to consult with a multidisciplinary team of healthcare professionals to determine the most appropriate CMT plan for each individual patient, considering both the potential benefits and risks associated with each treatment method.

Local neoplasm recurrence is the return or regrowth of a tumor in the same location where it was originally removed or treated. This means that cancer cells have survived the initial treatment and started to grow again in the same area. It's essential to monitor and detect any local recurrence as early as possible, as it can affect the prognosis and may require additional treatment.

Treatment outcome is a term used to describe the result or effect of medical treatment on a patient's health status. It can be measured in various ways, such as through symptoms improvement, disease remission, reduced disability, improved quality of life, or survival rates. The treatment outcome helps healthcare providers evaluate the effectiveness of a particular treatment plan and make informed decisions about future care. It is also used in clinical research to compare the efficacy of different treatments and improve patient care.

Beta-catenin is a protein that plays a crucial role in gene transcription and cell-cell adhesion. It is a key component of the Wnt signaling pathway, which regulates various processes such as cell proliferation, differentiation, and migration during embryonic development and tissue homeostasis in adults.

In the absence of Wnt signals, beta-catenin forms a complex with other proteins, including adenomatous polyposis coli (APC) and axin, which targets it for degradation by the proteasome. When Wnt ligands bind to their receptors, this complex is disrupted, allowing beta-catenin to accumulate in the cytoplasm and translocate to the nucleus. In the nucleus, beta-catenin interacts with T cell factor/lymphoid enhancer-binding factor (TCF/LEF) transcription factors to activate the transcription of target genes involved in cell fate determination, survival, and proliferation.

Mutations in the genes encoding components of the Wnt signaling pathway, including beta-catenin, have been implicated in various human diseases, such as cancer, developmental disorders, and degenerative conditions.

'Mammary neoplasms, experimental' is not a recognized medical term. However, I can provide definitions for the individual terms:

1. Mammary: Pertaining to the breast or mammary glands in females, which are responsible for milk production.
2. Neoplasms: Abnormal growths of tissue, also known as tumors or masses, that can be benign (non-cancerous) or malignant (cancerous).
3. Experimental: Relating to a scientific experiment or study, typically conducted in a controlled setting to test hypotheses and gather data.

In the context of medical research, 'experimental mammary neoplasms' may refer to artificially induced breast tumors in laboratory animals (such as rats or mice) for the purpose of studying the development, progression, treatment, and prevention of breast cancer. These studies can help researchers better understand the biology of breast cancer and develop new therapies and strategies for its diagnosis and management.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

DNA methylation is a process by which methyl groups (-CH3) are added to the cytosine ring of DNA molecules, often at the 5' position of cytospine phosphate-deoxyguanosine (CpG) dinucleotides. This modification is catalyzed by DNA methyltransferase enzymes and results in the formation of 5-methylcytosine.

DNA methylation plays a crucial role in the regulation of gene expression, genomic imprinting, X chromosome inactivation, and suppression of transposable elements. Abnormal DNA methylation patterns have been associated with various diseases, including cancer, where tumor suppressor genes are often silenced by promoter methylation.

In summary, DNA methylation is a fundamental epigenetic modification that influences gene expression and genome stability, and its dysregulation has important implications for human health and disease.

Polymerase Chain Reaction (PCR) is a laboratory technique used to amplify specific regions of DNA. It enables the production of thousands to millions of copies of a particular DNA sequence in a rapid and efficient manner, making it an essential tool in various fields such as molecular biology, medical diagnostics, forensic science, and research.

The PCR process involves repeated cycles of heating and cooling to separate the DNA strands, allow primers (short sequences of single-stranded DNA) to attach to the target regions, and extend these primers using an enzyme called Taq polymerase, resulting in the exponential amplification of the desired DNA segment.

In a medical context, PCR is often used for detecting and quantifying specific pathogens (viruses, bacteria, fungi, or parasites) in clinical samples, identifying genetic mutations or polymorphisms associated with diseases, monitoring disease progression, and evaluating treatment effectiveness.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

Pathologic neovascularization is the abnormal growth of new blood vessels in previously avascular tissue or excessive growth within existing vasculature, which occurs as a result of hypoxia, inflammation, or angiogenic stimuli. These newly formed vessels are often disorganized, fragile, and lack proper vessel hierarchy, leading to impaired blood flow and increased vascular permeability. Pathologic neovascularization can be observed in various diseases such as cancer, diabetic retinopathy, age-related macular degeneration, and chronic inflammation. This process contributes to disease progression by promoting tumor growth, metastasis, and edema formation, ultimately leading to tissue damage and organ dysfunction.

Signal transduction is the process by which a cell converts an extracellular signal, such as a hormone or neurotransmitter, into an intracellular response. This involves a series of molecular events that transmit the signal from the cell surface to the interior of the cell, ultimately resulting in changes in gene expression, protein activity, or metabolism.

The process typically begins with the binding of the extracellular signal to a receptor located on the cell membrane. This binding event activates the receptor, which then triggers a cascade of intracellular signaling molecules, such as second messengers, protein kinases, and ion channels. These molecules amplify and propagate the signal, ultimately leading to the activation or inhibition of specific cellular responses.

Signal transduction pathways are highly regulated and can be modulated by various factors, including other signaling molecules, post-translational modifications, and feedback mechanisms. Dysregulation of these pathways has been implicated in a variety of diseases, including cancer, diabetes, and neurological disorders.

Promoter regions in genetics refer to specific DNA sequences located near the transcription start site of a gene. They serve as binding sites for RNA polymerase and various transcription factors that regulate the initiation of gene transcription. These regulatory elements help control the rate of transcription and, therefore, the level of gene expression. Promoter regions can be composed of different types of sequences, such as the TATA box and CAAT box, and their organization and composition can vary between different genes and species.

Transfection is a term used in molecular biology that refers to the process of deliberately introducing foreign genetic material (DNA, RNA or artificial gene constructs) into cells. This is typically done using chemical or physical methods, such as lipofection or electroporation. Transfection is widely used in research and medical settings for various purposes, including studying gene function, producing proteins, developing gene therapies, and creating genetically modified organisms. It's important to note that transfection is different from transduction, which is the process of introducing genetic material into cells using viruses as vectors.

Neoplasm metastasis is the spread of cancer cells from the primary site (where the original or primary tumor formed) to other places in the body. This happens when cancer cells break away from the original (primary) tumor and enter the bloodstream or lymphatic system. The cancer cells can then travel to other parts of the body and form new tumors, called secondary tumors or metastases.

Metastasis is a key feature of malignant neoplasms (cancers), and it is one of the main ways that cancer can cause harm in the body. The metastatic tumors may continue to grow and may cause damage to the organs and tissues where they are located. They can also release additional cancer cells into the bloodstream or lymphatic system, leading to further spread of the cancer.

The metastatic tumors are named based on the location where they are found, as well as the type of primary cancer. For example, if a patient has a primary lung cancer that has metastasized to the liver, the metastatic tumor would be called a liver metastasis from lung cancer.

It is important to note that the presence of metastases can significantly affect a person's prognosis and treatment options. In general, metastatic cancer is more difficult to treat than cancer that has not spread beyond its original site. However, there are many factors that can influence a person's prognosis and response to treatment, so it is important for each individual to discuss their specific situation with their healthcare team.

Syndromic causes of Wilms' tumor occur as a result of alterations to genes such as the Wilms Tumor 1 (WT1) or Wilms Tumor 2 ( ... "Wilms Tumor and Other Childhood Kidney Tumors Treatment". National Cancer Institute. Retrieved 2018-11-12. "Wilms tumor: ... Wilms' tumor or Wilms tumor, also known as nephroblastoma, is a cancer of the kidneys that typically occurs in children (rarely ... Non-syndromic Wilms' tumor is not associated with other symptoms or pathologies. Many, but not all, cases of Wilms' tumor ...
... is a protein that in humans is encoded by the WT4 gene. "Human PubMed Reference:". National Center for ... "Entrez Gene: Wilms tumor-4". Retrieved 2018-04-03. v t e (Articles with short description, Short description matches Wikidata, ...
WT1 Wilms tumor 1". Han Y, San-Marina S, Yang L, Khoury H, Minden MD (2007). "The zinc finger domain of Wilms' tumor 1 ... Haber DA, Buckler AJ (February 1992). "WT1: a novel tumor suppressor gene inactivated in Wilms' tumor". The New Biologist. 4 (2 ... "The WT1 Wilms tumor gene product: a developmentally regulated transcription factor in the kidney that functions as a tumor ... "Upregulation of Wilms' tumor gene 1 (WT1) in desmoid tumors". International Journal of Cancer. 114 (2): 202-8. doi:10.1002/ijc. ...
The National Wilms Tumor Study Group (NWTS) is a cancer research cooperative group in the United States formed to study a type ... National Wilms Tumor Study Group - home page v t e v t e (Articles lacking sources from June 2019, All articles lacking sources ... Approximately 70-80% of patients with Wilms' tumor were enrolled on NWTS treatment protocols, totalling 440 patients per year. ... of kidney tumor that affects children called Wilms' tumor. In 2001, NWTS merged with several other pediatric oncology ...
Wilms' tumor (WT), also known as nephroblastoma, is an embryonic tumor originating from metanephric blastemal cells that are ... WTs are often a result of a genetic deletions or inactivating mutations in WT1 (Wilms tumor 1), which subsequently inhibits Wnt ... Carraro, DM; Ramalho, RF; Maschietto, M (23 March 2016). Wilms Tumor. Utrecht, The Netherlands: Codon Publications. pp. 149-162 ... ISBN 978-0-9944381-1-9. Hastie, ND (15 Aug 2017). "Wilms' tumour 1 (WT1) in development, homeostasis and disease". Development ...
... survival rate in children with Wilms' tumors by the end of the century. In 1939, during his appointment at the Children's ... "Max Wilms and his tumor". Journal of Pediatric Surgery. 50 (2): 356-359. doi:10.1016/j.jpedsurg.2014.10.054. PMID 25638637. ... and further development of treatment protocols by the National Wilms Tumor Study Group resulted in a 90% ... tumor, a pediatric cancer of the kidneys. The antibiotic, derived from Streptomyces parvulus, was originally offered for free ...
Wilms' tumour OMIM (1966-2009). Mulibrey nanism. NCBI (Johns Hopkins University). Retrieved May 7, 2009 from, https://www.ncbi. ... Individuals with Mulibrey nanism have also been reported to have intellectual disability, tumors, and infertility. Mulibrey ...
Wilms' tumor, the most common renal tumor of childhood, is responsible for 6-7% of childhood cancer whereas all remaining ... Broecker, Bruce (2000). "Non-Wilms' Renal Tumors in Children". Urologic Clinics of North America. 27 (3): 463-9, ix. doi: ... The role of radiation is unclear; some tumors have shown a response to radiation. Due to the apparent propensity for the tumor ... Histopathology studies show a distinctive pattern that can be distinguished from other renal tumors. Renal medullary carcinoma ...
Ruteshouser EC, Ashworth LK, Huff V (2001). "Absence of PPP2R1A mutations in Wilms tumor". Oncogene. 20 (16): 2050-2054. doi: ... Walter G, Ferre F, Espiritu O, Carbone-Wiley A (1989). "Molecular cloning and sequence of cDNA encoding polyoma medium tumor ... Walter G, Ruediger R, Slaughter C, Mumby M (1990). "Association of protein phosphatase 2A with polyoma virus medium tumor ... 1994). "Molecular model of the A subunit of protein phosphatase 2A: interaction with other subunits and tumor antigens". J. ...
It has been associated with Wilms tumor. Rivera MN, Kim WJ, Wells J, Driscoll DR, Brannigan BW, Han M, Kim JC, Feinberg AP, ... is commonly inactivated in Wilms tumor". Science. 315 (5812): 642-5. Bibcode:2007Sci...315..642R. doi:10.1126/science.1137509. ...
... (also known as WAGR complex, Wilms tumour-aniridia syndrome, aniridia-Wilms tumour syndrome) is a rare genetic ... It is possible for those with WAGR syndrome to develop Wilms tumor, a rare form of kidney cancer. Newborn children with WAGR ... About 50% of people develop Wilms' tumour. WAGR syndrome is caused by a mutation on chromosome 11 in the 11p13 region. ... Children with WAGR syndrome receive regular (3-4 yearly) kidney surveillance for Wilms' tumour until at least the age of 6-8 ...
The majority of kidney cancers reported in children are Wilms' tumors. These tumors can begin to grow when a fetus is still ... "Wilms Tumor and Other Childhood Kidney Tumors Treatment". National Cancer Institute. 2019. Retrieved 8 June 2019. "Cancer of ... In both male and female children, renal tumors represent 2% to 6% of kidney cancer, with Wilms' tumor being the most common. ... Wilms' tumor is most common in children under the age of 5, but can rarely be diagnosed in older children or in adults. It is ...
"Entrez Gene: WTAP Wilms tumor 1 associated protein". Small TW, Bolender Z, Bueno C, et al. (2007). "Wilms' tumor 1-associating ... The Wilms tumor suppressor gene WT1 appears to play a role in both transcriptional and posttranscriptional regulation of ... 2007). "Wilms' tumor 1-associating protein regulates G2/M transition through stabilization of cyclin A2 mRNA". Proc. Natl. Acad ... 2007). "Wilms' tumor 1 and signal transducers and activators of transcription 3 synergistically promote cell proliferation: a ...
Treatment of Wilms Tumor at National Cancer Institute. Last Modified: 03/29/2012 El Weshi, A; Memon, M; Raja, M; Bazarbashi, S ... in adult patients with recurrent or refractory Ewing sarcoma family of tumors". American Journal of Clinical Oncology. 27 (5): ...
"AURKC promoter regions are differentially methylated in Wilms' tumor". Frontiers in Bioscience. 10 (1): 143-154. doi:10.2741/ ... Tumour Biology. 36 (10): 8147-58. doi:10.1007/s13277-015-3553-5. PMID 25990457. S2CID 9094864. Lin BW, Wang YC, Chang-Liao PY, ... "Overexpression of active Aurora-C kinase results in cell transformation and tumour formation". PLOS ONE. 6 (10): e26512. doi: ... producing multinucleated cells and tumors in vivo when overexpressed. When cells overexpressing Aurora C were treated with ...
2007). "CITED1 expression in Wilms' tumor and embryonic kidney". Neoplasia. 9 (7): 589-600. doi:10.1593/neo.07358. PMC 1941694 ...
He is also known for his role as reference pathologist for the National Wilms Tumor Study Group, a position he held from 1969 ... "J. Bruce Beckwith, MD". National Wilms Tumor Study Group. Retrieved 2018-08-24. "Studying a Miracle". The Whitman College ...
Alternative U-to-C mRNA editing was first reported in WT1 (Wilms Tumor-1) transcripts, and non-classic G-A mRNA changes were ... Sharma PM, Bowman M, Madden SL, Rauscher FJ, Sukumar S (March 1994). "RNA editing in the Wilms' tumor susceptibility gene, WT1 ...
2016-03-23), "Chronic Kidney Disease in Wilms Tumour Survivors - What Do We Know Today?", Wilms Tumor, Codon Publications, pp. ... Wilms tumor of the kidney is now 90% curable. Acute lymphocytic leukemia is about 85% curable and the Midwest Children's Cancer ...
"Confirmation of FWT1 as a Wilms' tumour susceptibility gene and phenotypic characteristics of Wilms' tumour attributable to ... and completed a PhD in Molecular Genetics in 1999 on the Wilms' tumor susceptibility gene FWT1. She completed her Certificate ... "Evidence for a familial Wilms' tumour gene (FWT1) on chromosome 17q12-q21". Nature Genetics. 13 (4): 461-3. doi:10.1038/ng0896- ... "Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation". Nature Genetics. 49 (7): 1148-1151. doi: ...
WT1 is an oncogene associated with Wilms' tumor nephroblastoma cancer. WT1 or WT-1 may also refer to: WT1-AS (WIT1), the WT1 ...
The cause of DDS is most commonly (96% of patients) an abnormality in the WT1 gene (Wilms tumor suppressor gene). These ... Genetically, the syndrome is due to mutations in the Wilms tumor suppressor gene, WT1, which is on chromosome 11 (11p13). These ... Drash A, Sherman F, Hartmann WH, Blizzard RM (1970). "A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and ... Clinically, Denys-Drash is characterized by the triad of pseudohermaphroditism, mesangial renal sclerosis, and Wilms' tumor. ...
"The candidate Wilms' tumour gene is involved in genitourinary development". Nature. 346 (6280): 194-7. Bibcode:1990Natur.346.. ... He continues to make incisive contributions to our understanding of the role of WT1, the candidate Wilm's Tumour gene, in ... Nick Hastie's current work is focused on human developmental mutations, notably Wilm's tumour and Aniridia. His group ...
"The candidate Wilms' tumour gene is involved in genitourinary development". Nature. 346 (6280): 194-197. Bibcode:1990Natur.346 ...
Hardwick, D.F. and Stowens, D. "Wilms' Tumors", J. Urol. 85:903 (1961). Hardwick, D.F., Misrahy, G.A., Garwood, V.P. and ... His research included the first description of histopathologic implications of differential survival of Wilms' Tumors to ... Physiology and Pathology led to numerous publications including an early conclusion that the histological appearance of Wilms' ...
"The candidate Wilms' tumour gene is involved in genitourinary development". Nature. 346 (6280): 194-7. Bibcode:1990Natur.346.. ...
September 1999). "The Wilms tumor suppressor WT1 encodes a transcriptional activator of amphiregulin". Cell. 98 (5): 663-673. ... "The amphiregulin gene encodes a novel epidermal growth factor-related protein with tumor-inhibitory activity". Molecular and ... "The amphiregulin gene encodes a novel epidermal growth factor-related protein with tumor-inhibitory activity". Molecular and ...
Knudson subsequently showed that the model was not only applicable to retinoblastoma but also to Wilms' tumors of the kidney. ... Knudson, AG; Strong, LC (February 1972). "Mutation and cancer: a model for Wilms' tumor of the kidney". Journal of the National ... Children in families with a hereditary predisposition have more tumors at a younger age and usually have tumors in both eyes. ... "Tumor suppressor genes as a cause of cancer". The Lasker Foundation. "Kyoto Prize, Inamori Foundation". Kyoto Prize, Inamori ...
Other cancers such as Wilms' tumor show no expression of sulfatide. Therefore, it appears that such increased levels of ... This includes diabetes mellitus, cancer and tumors, metachromatic leukodystrophy, various bacterial infections, and viruses, ... Chemokines are implicated in: Angiogenesis HIV-1 infection Tumour metastasis Haematopoiesis Graft rejection Embryonic ... and tumor necrosis factor alpha (TNF-α) that promote apoptosis. Sulfatide may also be involved in not just type I diabetes, but ...
She subsequently became involved in the National Wilms Tumor Study Group. She then worked as a research assistant in the ...
Syndromic causes of Wilms tumor occur as a result of alterations to genes such as the Wilms Tumor 1 (WT1) or Wilms Tumor 2 ( ... "Wilms Tumor and Other Childhood Kidney Tumors Treatment". National Cancer Institute. Retrieved 2018-11-12. "Wilms tumor: ... Wilms tumor or Wilms tumor, also known as nephroblastoma, is a cancer of the kidneys that typically occurs in children (rarely ... Non-syndromic Wilms tumor is not associated with other symptoms or pathologies. Many, but not all, cases of Wilms tumor ...
Tumor (or Nephroblastoma) is a rare type of cancer that affects one or both kidneys. Find a list of symptoms and treatments ... Treatment Option Overview (Wilms Tumor and Other Childhood Kidney Tumors) (National Cancer Institute) Also in Spanish ... General Information about Wilms Tumor and Other Childhood Kidney Tumors (National Cancer Institute) Also in Spanish ... Wilms tumor is a rare type of kidney cancer. It causes a tumor on one or both kidneys. It usually affects children, but can ...
The tumor (see the images below) occurs in both hereditary and sporadic forms, and approximately 6% are bilateral. ... Wilms tumor, or nephroblastoma, is the most common solid renal mass and abdominal malignancy of childhood, with a prevalence of ... If a Wilms tumor is noted in the walls of this tumor during histologic analysis, it is often treated as a Wilms tumor. ... Wilms tumors are usually staged by using the method suggested in the National Wilms Tumor Studies (NWTS), in which the tumors ...
The median age at diagnosis of Wilms tumor is approximately 3. ... Wilms tumor, or nephroblastoma, is the most common childhood ... Treatment of Wilms tumor. Results of the Third National Wilms Tumor Study. Cancer. 1989 Jul 15. 64(2):349-60. [QxMD MEDLINE ... Childrens Oncology Group staging of Wilms tumors. Stage I tumors have the following characteristics:. * The tumor is limited ... Patients with anaplastic Wilms tumor have a worse prognosis compared with favorable histology Wilms tumor; the 4-year overall ...
The tumor (see the images below) occurs in both hereditary and sporadic forms, and approximately 6% are bilateral. ... Wilms tumor, or nephroblastoma, is the most common solid renal mass and abdominal malignancy of childhood, with a prevalence of ... If a Wilms tumor is noted in the walls of this tumor during histologic analysis, it is often treated as a Wilms tumor. ... Wilms tumors are usually staged by using the method suggested in the National Wilms Tumor Studies (NWTS), in which the tumors ...
The Aflac Cancer and Blood Disorders Center offers a full range of treatment options for children and young adults with Wilms ... Wilms tumor-also known as nephroblastoma-is a cancerous solid tumor that occurs in the kidneys. It can affect one or both ... Wilms/Kidney Tumor Program. Our nationally recognized pediatric cancer program offers a range of treatments for children with ... We offer a full range of treatment options for kids and young adults with kidney tumors. We will create a treatment plan for ...
... including rare cancer like pediatric Wilms tumor. Learn more about treatment options. ... What is Wilms tumor?. Wilms tumor is a rare pediatric kidney cancer that typically affects children under the age of 4. It most ... Wilms tumor: Small patients. Big care.. If your child has a Wilms tumor, UW Health Kids , Carbone Cancer Center experts - ... Wilms tumor diagnosis. Your childs doctor will do a full physical exam and take a detailed medical history. Additional tests ...
... a cancerous tumor originating in the cells of the kidney. ... Wilms Tumor. Wilms tumor, also called nephroblastoma, is a ... What Causes Wilms Tumor?. It is uncommon for Wilms tumor to run in families. Less than 2% of cases will have an affected ... How Is Wilms Tumor Treated?. Specific treatment for Wilms tumor will be determined by your childs physician based on:. *Your ... What Are the Symptoms of Wilms Tumor?. The following are the most common symptoms of a Wilms tumor. However, each child may ...
Just Diagnosed In Treatment After Treatment Late Effects of Kidney/Wilms Tumor After a patient finishes treatment for cancer, ... Physician reviewed information for families about Wilms tumor in children, including what to expect after treatment has been ... Wilms Tumor in Children - After Treatment Home » Cancer Resources » Types of Childrens Cancer » Solid Tumors in Children - ... Cancer of the Bone, Organs or Tissues » Wilms Tumor in Children » Wilms Tumor in Children - After Treatment ...
The WT1-related Wilms tumor (WT) syndromes are a group of hereditary disorders caused by alterations in a gene known as WT1. ... What are the WT1-related Wilms tumor (WT) syndromes?. The WT1-related Wilms tumor (WT) syndromes are a group of hereditary ... These lesions are Wilms tumor precursors. Sometimes they develop into Wilms tumor and other times they regress during early ... GU anomalies: Some people will develop Wilms tumor. The majority of children with WT1-related Wilms tumor syndromes have ...
Cancer cytogenetics, Chromosomal aberrations, Wilms tumour, Wilms-Tumor, Genetische Untersuchungen, Zytogenese, Chromosomale ... Wilms tumour; Wilms-Tumor; Genetische Untersuchungen; Zytogenese; Chromosomale Störungen}}, language = {{eng}}, number = {{5 ... In 26 consecutive patients operated for Wilms tumour samples from the tumour were genetically analyzed. Clonal acquired ... Chromosomal aberrations in Wilms tumour. *Mark. Kullendorff, Carl-Magnus LU and Wiebe, Thomas LU (1997) In European Journal of ...
At age 7, after complaining of stomach pain, RL was diagnosed at a New Jersey hospital with bilateral Wilms tumor. She began a ... Case Study: Concurrent Bilateral Partial Nephrectomies for Wilms Tumors. Published on Feb 22, 2021 ... Bilateral renal disease implies a predisposition syndrome that caused RL to develop two tumors independently of each other. ... This requires complete resection of the tumors from the kidneys with intraoperative negative margins to prevent recurrence ...
O tumor de Wilms é a neoplasia renal mais comum em crianças. Geralmente, apresenta-se como uma massa unilateral e indolor no ... O tumor de Wilms, ou nefroblastoma, é a forma mais comum de neoplasia renal na infância.[1]Nakata K, Colombet M, Stiller CA, et ... O tumor de Wilms é a neoplasia renal mais comum em crianças. ... Wilms tumour. Nat Rev Dis Primers. 2021 Oct 14;7(1):75. https ... O risco de desenvolver tumor de Wilms é maior em algumas síndromes congênitas de supercrescimento, síndromes congênitas não ...
Wilms tumor, or nephroblastoma, is a type of childhood cancer that develops in immature kidney cells, unrelated to adult kidney ... Tumor. In the diagnosis of Wilms tumor, the appearance of cancer cells under a microscope is very important. Wilms tumors ... Wilms tumor also is called nephroblastoma, for nephro, meaning kidney, blast, meaning primitive cell and oma, meaning tumor. ... If the tumor has a "favorable" cell type or if your child has anaplastic Wilms tumor, your childs treatment will probably ...
OMIM:194072 - WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; WAGR ...
One study had 35 patients with favorable histology stage I or II Wilms tumor and LOH 1p/16q, and the second study had 52 ... In children who are at risk for Wilms tumor, the presence of a rare genetic abnormality identifies children who can have a ... Approximately 500 new cases of Wilms tumor are diagnosed annually in North America, and 5% to 7% of these cases have LOH 1p/16q ... "Intensification of therapy up front is not advisable for all patients with Wilms tumor. It has significant side effects. But we ...
This GeneReview is intended to help clinicians determine if a genetic basis can be identified in an individual with Wilms tumor ... of all Wilms tumor. MOI. Estimated Wilms Tumor Risk. Other Features. REST REST-related Wilms tumor (OMIM 616806). ~2%. AD. ... A National Wilms Tumor Study on familial Wilms tumor showed that 15 of 456 individuals (3.3%) with bilateral Wilms tumor had a ... Note: The risk for Wilms tumor in the children of survivors of bilateral Wilms tumor is unknown. Some bilateral Wilms tumors ...
Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort ... Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort ...
Keywords: RAN, RANBP2, polymorphism, Wilms tumor, susceptibility Introduction. Wilms tumor, resulting from deviant cellular ... increased the risk of Wilms tumor [8]. MYCN amplification enhances promoted the development of Wilms tumor through multiple ... Functional characterization of Wilms tumor-suppressor WTX and tumor-associated mutants. Oncogene. 2011;30:832-42 ... in the Wilms tumor suppressor 1 gene WT1 and the cadherin-associated protein beta1 gene CTNNB1 for patients with Wilms tumors: ...
Keywords: Wilms tumor, susceptibility, WDR4, polymorphism, m7G modification Introduction. Wilms tumor is the most frequently ... and the incidence of Wilms tumor varies greatly by geography and ethnicity. The highest incidence rate of Wilms tumor is in the ... enrolled from the same hospitals as the Wilms tumor patients during the same period and had no family history of Wilms tumor. ... Update on Wilms tumor. J Pediatr Surg. 2019;54:390-7 8. Wong KF, Reulen RC, Winter DL, Guha J, Fidler MM, Kelly J. et al. Risk ...
Dive into the research topics of Structural and Functional Studies of the Wilms Tumour 1 Protein (WT1) in Interaction with ... Structural and Functional Studies of the Wilms Tumour 1 Protein (WT1) in Interaction with Nucleic acids. ...
... and DNA methylation in 117 Wilms tumors, followed by targeted sequencing of 651 Wilms tumors. In addition to genes previously ... A Childrens Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor. [1]. ... Home , A Childrens Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor. ... we identified mutations in genes not previously recognized as recurrently involved in Wilms tumors, the most frequent being ...
Wilms Tumor - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - Medical Professional ... Wilms tumor usually manifests in children < 5 years of age but occasionally in older children and rarely in adults. Wilms tumor ... tumor: A report from the National Wilms Tumor Study Group. J Clin Oncol 19(17):3719-3724, 2001. doi: 10.1200/JCO.2001.19. ... However, death... read more < 15 years of age (1 Reference Wilms tumor is an embryonal cancer of the kidney composed of ...
In children with Wilms Tumor, we propose a pathoembryologic explanation for not just the tumor, but also for the cause of ... "Wilms Tumor After Orthotopic Liver Transplant in a Patient With Alagille Syndrome." Urology, vol. 121, Nov. 2018, pp. 171-74. ... Wilms Tumor After Orthotopic Liver Transplant in a Patient With Alagille Syndrome.. Publication , Journal Article ... "Wilms Tumor After Orthotopic Liver Transplant in a Patient With Alagille Syndrome." Urology 121 (November 2018): 171-74. https ...
Clear-cell sarcoma and rhabdoid tumors are aggressive renal tumors and are not classified as Wilms tumor. Congenital ... 1. Wilms tumor accounts for 6% of childhood cancers and 8% of all solid tumors in children. It is the most common renal ... A small percentage of Wilms tumors are hereditary. Hereditary forms account for the majority of bilateral Wilms. Chromosomal ... A membranous capsule usually encloses the tumor. Wilms tumors may be multifocal, extend to surrounding structures, involve ...
Genet Canada Corporation , Website content is for educational and research purposes only and is not intended to be used for medical advice, diagnosis or treatment. ...
Wilms tumor. Wilms tumor is considered a non-clear cell RCC. It is the most common type of kidney cancer in children under ... Staging kidney cancer is important to determine how large of a tumor is present, where the tumor currently is, and whether the ... If a tumor is present, the blood supply to the tumor can be seen. ... If a tumor is present, it may reveal its size and consistency. ... Stage II: The tumor may be larger than 7 cm on one kidney in this stage, or has spread to the fat or tissues of the kidney. The ...
What is Wilms tumor?. Wilms tumor, also called nephroblastoma, is a malignant (cancerous) tumor originating in the cells of ... and the average age of children diagnosed with Wilms tumor is 2 to 3 years old. For unknown reasons, Wilms tumor affects more ... Wilms tumor is unrelated to adult kidney cancer. The tumor usually affects a single kidney, but approximately 5 to 10 percent ... of children with Wilms tumor have both kidneys involved.. Wilms tumor occurs in children up to about age 8. About 75 percent ...
The tumor (see the images below) occurs in both hereditary and sporadic forms, and approximately 6% are bilateral. ... Wilms tumor, or nephroblastoma, is the most common solid renal mass and abdominal malignancy of childhood, with a prevalence of ... If a Wilms tumor is noted in the walls of this tumor during histologic analysis, it is often treated as a Wilms tumor. ... Wilms tumors are usually staged by using the method suggested in the National Wilms Tumor Studies (NWTS), in which the tumors ...
  • Wilms' tumor or Wilms tumor, also known as nephroblastoma, is a cancer of the kidneys that typically occurs in children (rarely in adults), and occurs most commonly as a renal tumor in child patients. (wikipedia.org)
  • citation needed] Pathologically, a triphasic nephroblastoma comprises three elements: blastema mesenchyme (stroma) epithelium Wilms' tumor is a malignant tumor containing metanephric blastema, stromal and epithelial derivatives. (wikipedia.org)
  • Wilms tumor , or nephroblastoma, is the most common solid renal mass and abdominal malignancy of childhood, with a prevalence of 1 case per 10,000 population. (medscape.com)
  • Wilms tumor, or nephroblastoma, is the most common childhood abdominal malignancy. (medscape.com)
  • Wilms tumor-also known as nephroblastoma-is a cancerous solid tumor that occurs in the kidneys. (choa.org)
  • Wilms tumor, also called nephroblastoma, is a malignant (cancerous) tumor originating in the cells of the kidney. (luriechildrens.org)
  • Patients with these conditions have a greater risk of developing a malignant tumor of the kidney known as Wilms tumor (WT), or nephroblastoma. (chop.edu)
  • Wilms tumor (nephroblastoma), an embryonal malignancy of the kidney, is the most common renal tumor of childhood [ Fernandez et al 2021 ]. (nih.gov)
  • German surgeon Max Wilms revealed the disease in the child, and later, found that nephroblastoma could occur only in children aged 3-4 as their kidney tissue has a large number of embryonic cells (American Cancer Society, 2015). (master-dissertation.com)
  • It is also necessary to mention the relation of nephroblastoma with some rare syndromes such as Beckwith-Wiedemann syndrome (increased body weight and visceral), WAGR (combines several symptoms of abnormal development), Denys-Drash syndrome (underdevelopment of genitals), Klippel-Trenaunay syndrome, and congenital nephroma (i.e. kidney tumor in infants) (Dome, Graf, & Geller, 2015). (master-dissertation.com)
  • Wilms' tumour or Nephroblastoma is the most common primary renal tumour of childhood. (cmej.org.za)
  • Cystic Partially Differentiated Nephroblastoma is a rare type of Wilms's tumor made up of cysts. (drshyamvarma.com)
  • Wilms's tumor, also called nephroblastoma, nearly always affects children under age six. (beltina.org)
  • solid course="kwd-title" Keywords: andrographolide, vincristine, p53, medication combination Intro Nephroblastoma is actually a Wilms tumor (WT) after Dr Utmost Wilms who first referred to it in 1899. (cancerdir.com)
  • Higher risk of developing Wilms tumor: The risk of developing Wilms tumor is about 50 percent. (chop.edu)
  • Higher risk of developing Wilms tumor: The risk of developing Wilms tumor varies, depending upon the WT1 gene alteration that is present. (chop.edu)
  • In the United States, African-American children have a slightly greater risk of developing Wilms' tumor than children of other races. (iytmed.com)
  • Staging is a standard way to describe the extent of spread of Wilms' tumors and to determine prognosis and treatments. (wikipedia.org)
  • The abnormality-loss of heterozygosity (LOH) on chromosomes 1p and 16q (LOH 1p/16q)-is associated with worse prognosis in children with Wilms tumor. (ahdbonline.com)
  • Tumors with anaplastic histology usually have somatic mutation of TP53 and inferior prognosis compared to tumors with favorable histology [ Ooms et al 2016 , Daw et al 2020 ]. (nih.gov)
  • Although Wilms tumor have an overall survival rate of 80%, more than 15% of patients have a poor prognosis despite aggressive retreatment [ 5 ]. (jcancer.org)
  • Therefore, it is indispensable to find more effective therapies in order to improve the poor prognosis of Wilms tumor. (jcancer.org)
  • As with any cancer, prognosis and long-term survival can vary greatly from child to child, but most children with Wilms' tumor can be cured of the disease. (chop.edu)
  • Patients with Wilms tumor (WT) in general have excellent survival, but the prognosis of patients belonging to the subgroup of WT with diffuse anaplasia (DA) is poor due to frequent resistance to chemotherapy. (lu.se)
  • Chromosomal alterations have recurrently been identified in Wilms tumors (WTs) and some are associated with poor prognosis. (prinsesmaximacentrum.nl)
  • It causes a tumor on one or both kidneys. (medlineplus.gov)
  • In approximately 5% of children with Wilms tumor, both kidneys are involved. (luriechildrens.org)
  • can provide an outline of the kidneys, the tumor and determine if there are problems in the renal or other major veins in the abdomen. (luriechildrens.org)
  • This requires complete resection of the tumors from the kidneys with intraoperative negative margins to prevent recurrence while sparing healthy renal tissue. (chop.edu)
  • In partnership with the Department of Radiology, 3D models of RL's kidneys were created so Kolon could visualize the condition of the tumors and their proximity to critical renal vascular supply and collecting system. (chop.edu)
  • Wilms' tumor is a type of childhood cancer that occurs in the kidneys. (ucsfbenioffchildrens.org)
  • The tumor usually affects a single kidney, but approximately 5 to 10 percent of children with Wilms' tumor have both kidneys involved. (chop.edu)
  • If both kidneys are affected (bilateral Wilms' tumor), the age at diagnosis usually is 30-33 months. (chop.edu)
  • In about 10% of patients Wilms Tumor occurs in both kidneys, and in some instances one kidney has a malignant tumor while the other kidney has one or more benign nodules. (hopkinsmedicine.org)
  • If the tumor is too large to resect or involves both kidneys, we will take a small biopsy and then use chemotherapy to shrink the tumor(s), followed by a second surgery 6-9 weeks later. (hopkinsmedicine.org)
  • When the tumor is very large or the cancer involves both KIDNEYS, the oncologist may recommend chemotherapy or radiation therapy (or a combination of both) before surgery to shrink the tumors as much as possible. (beltina.org)
  • Researchers believe Wilms's tumor represents clusters of cells in the kidneys that remain primitive, a consequence of the WT1 and WT2 mutations. (beltina.org)
  • Wilms' tumor frequently happens in just one kidney, though it can often be discovered in both kidneys at the same time. (iytmed.com)
  • These laboratory tests cannot discover Wilms' tumor, but they can suggest how well the kidneys are working and reveal certain kidney problems or low blood counts. (iytmed.com)
  • Tests that develop pictures of the kidneys assist the doctor identify whether your child has a kidney tumor. (iytmed.com)
  • An individual with renal cancer may have tumors in one or both kidneys. (medicalnewstoday.com)
  • The tumor is growing beyond the fatty layer of the kidney and may grow into the adrenal gland - which is located on top of the kidneys - or nearby lymph nodes. (medicalnewstoday.com)
  • This is a tumor of the kidneys that can occur in early childhood. (uhhospitals.org)
  • CT scan of child with a stage IV Wilms tumor with favorable histology. (medscape.com)
  • CT scan in a patient with a right-sided Wilms tumor with favorable histology. (medscape.com)
  • One study had 35 patients with favorable histology stage I or II Wilms tumor and LOH 1p/16q, and the second study had 52 patients with favorable histology stage III or IV Wilms tumor and LOH 1p/16q. (ahdbonline.com)
  • Evaluation of the tumor by the pathologist will allow assignment of a tumor grade, either favorable histology (FH, 96% of patients) or unfavorable histology (UH, 4% of patients). (hopkinsmedicine.org)
  • the authors assessed the prognostic value of tumor weight and age at diagnosis and asked whether some other potential biological markers, specifically P-gp protein expression, had a prognostic value in favorable-histology WT. (unifesp.br)
  • Syndromic causes of Wilms' tumor occur as a result of alterations to genes such as the Wilms Tumor 1 (WT1) or Wilms Tumor 2 (WT2) genes, and the tumor presents with a group of other signs and symptoms. (wikipedia.org)
  • Tumor suppressor genes usually suppress the growth of tumors and control cell growth. (luriechildrens.org)
  • Located on CHROMOSOME 11, these are the Wilms's tumor 1 (WT1) and 2 (WT2) genes and provide encoding for development of urinary and genital structures. (beltina.org)
  • Moreover, 1q+ tumors were present in all four expression clusters reflecting activation of various biological processes, and individual tumors overexpress different genes on 1q. (prinsesmaximacentrum.nl)
  • They may also turn off tumor suppressor genes, which keep cell division under control and help cells die at an appropriate time. (medicalnewstoday.com)
  • MRI diffusion studies have been shown to help differentiate Wilms tumor from neuroblastoma, with the apparent diffusion coefficient (ADC) being substantially higher for Wilms tumor. (medscape.com)
  • A neuroblastoma may arise from sympathetic nervous tissue anywhere in the body, but this tumor most often develops in the abdomen. (aafp.org)
  • For example, neuroblastoma, retinoblastoma and Wilms' tumor most commonly occur in children between birth and four years of age, whereas osteosarcoma, Ewing's sarcoma and Hodgkin's disease tend to occur in children more than 10 years of age. (aafp.org)
  • Pediatric oncologist Frank M. Balis, MD , and pediatric urologist Thomas F. Kolon, MD , recommended finishing the 12 weeks of chemotherapy prior to surgery to continue to shrink the tumors, which at diagnosis had measured 9 cm on the right side and 4 cm on the left side and were now responding to the chemotherapy. (chop.edu)
  • In the COG treatment protocol, resection of all unilateral tumors is done first, whereas in the SIOP treatment protocol, preoperative chemotherapy is done first. (msdmanuals.com)
  • In addition, Wilms' tumor is treated by chemotherapy and high-dose radiation to kill remaining cancer cells. (chop.edu)
  • Continuous follow-up care is essential for a child diagnosed with Wilms' tumor because side effects of radiation and chemotherapy may occur as well as secondary malignancy. (chop.edu)
  • Patients with initial Stage I or Stage II Wilms Tumor who relapse can still be cured using more intense chemotherapy. (hopkinsmedicine.org)
  • Patients with initial Stage III or IV or UH Wilms Tumor who relapse can still be cured, with use of intense chemotherapy followed by an autologous stem cell transplant (this involves harvesting the patient's blood or marrow stem cells, followed by very high dose chemotherapy, and finally re-infusion of the patient's own stem cells to rescue the blood counts). (hopkinsmedicine.org)
  • NEPHRECTOMY (surgery to remove the affected kidney) in combination with CHEMOTHERAPY is the standard treatment for Wilms's tumor cancers. (beltina.org)
  • PURPOSE: The safety of reintroducing chemotherapy in the pediatric renal tumor setting after severe hepatopathy (SH), including sinusoidal obstruction syndrome (SOS), is uncertain. (gwu.edu)
  • PATIENTS AND METHODS: Archived charts for patients enrolled on NWTS 3-5 who met study inclusion criteria for SH by using established hepatopathy grading scales and clinical criteria were reviewed for demographics, tumor characteristics, radio- and chemotherapy details, SH-related dose modifications, and oncologic outcomes. (gwu.edu)
  • Tissue sections from chemotherapy-treated DA WTs (n = 12) were compared with chemotherapy-treated nonanaplastic WTs (n = 15) in a tissue microarray system, enabling analysis of 769 tumor regions. (lu.se)
  • Chemotherapy and radiotherapy are established risk factors for gonadal damage and are used in both COG and SIOP Wilms tumor treatment protocols . (bvsalud.org)
  • Our results indicated that RAN and RANBP2 polymorphisms were associated with Wilms tumor susceptibility in Chinese children. (jcancer.org)
  • We performed a large case-control study involving 414 patients and 1199 cancer-free controls to investigate whether single nucleotide polymorphisms (SNPs) in the WDR4 gene are associated with Wilms tumor susceptibility. (jcancer.org)
  • In particular, cases of bilateral Wilms' tumor, as well as cases of Wilms' tumor derived from certain genetic syndromes such as Denys-Drash syndrome, are strongly associated with nephrogenic rests. (wikipedia.org)
  • Renal tumors can also be found during routine screening in children who have known predisposing clinical syndromes. (wikipedia.org)
  • The WT1 -related Wilms tumor (WT) syndromes are a group of hereditary disorders caused by alterations in a gene known as WT1 . (chop.edu)
  • In addition to the WT1 -related Wilms tumor syndromes, there are a number of other genetic conditions associated with the development of WT. (chop.edu)
  • WT1 -related Wilms tumor syndromes are caused by alterations, or "mutations," at a specific area in an individual's genetic information. (chop.edu)
  • Clinical features of Wilms tumor predisposition syndromes (See Table 1 and Table 2 . (nih.gov)
  • The exact causes of Wilms's tumor are unknown but genetic syndromes affect the growth and development of the disease. (drshyamvarma.com)
  • Wilms's tumor also is associated with several rare genetic syndromes, making it likely that other gene mutations further contribute to the errant encoding that allows these primitive cells to thrive. (beltina.org)
  • If your child has risk factors for Wilms' tumor (such as recognized associated syndromes), the doctor may recommend regular kidney ultrasounds to look for kidney abnormalities. (iytmed.com)
  • A group of syndromes caused by autosomal dominant mutation(s) in the WT1 gene, encoding Wilms tumor protein. (nih.gov)
  • Genetic testing and tumor surveillance for children with cancer predisposition syndromes. (nih.gov)
  • Typical signs and symptoms of Wilms' tumor include the following:[citation needed] a painless, palpable abdominal mass loss of appetite abdominal pain fever nausea and vomiting blood in the urine (in about 20% of cases) high blood pressure in some cases (especially if synchronous or metachronous bilateral kidney involvement) Rarely as varicocele Wilms' tumor has many causes, which can broadly be categorized as syndromic and non-syndromic. (wikipedia.org)
  • Non-syndromic Wilms' tumor is not associated with other symptoms or pathologies. (wikipedia.org)
  • Children with Wilms' tumor may experience many different symptoms. (ucsfbenioffchildrens.org)
  • Wilms's tumor may not show symptoms until it is quite large, at which point a parent or caregiver may see or feel the tumor as a lump in the child's belly. (beltina.org)
  • Signs and symptoms of Wilms' tumor vary widely, and some children don't reveal any apparent signs. (iytmed.com)
  • Wilms' tumor is unusual, so it's a lot more likely that something else is triggering symptoms, however it's crucial to take a look at any issues. (iytmed.com)
  • The presenting symptoms of a brain tumor may include elevated intracranial pressure, nerve abnormalities and seizures. (aafp.org)
  • A spinal tumor often presents with signs and symptoms of spinal cord compression. (aafp.org)
  • The acronym WAGR stands for the four diseases present in WAGR syndrome, including: Wilms tumor, aniridia (absence of the iris, the colored part of the eye), genitourinary malformations and intellectual disabilities. (luriechildrens.org)
  • Speaking about the relationship between Wilms' tumor and congenital anomalies, it is necessary to highlight that the most wide-spread ones that accompany the disease are aniridia and cryptorchidism. (master-dissertation.com)
  • In rare instances Wilms Tumor is associated with additional abnormalities such as absence of an iris in the eye (aniridia), left versus right-sided limb length differences (hemihypertrophy), or enlargement of the tongue and large birth weight (as in Beckwith-Weidemann syndrome). (hopkinsmedicine.org)
  • This syndrome includes Wilms' tumor, aniridia, genital and urinary system problems, and intellectual impairments. (iytmed.com)
  • Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Wilms Tumor Protein (WT1) in tissue homogenates, cell lysates and other biological fluids. (kits-elisa.com)
  • Description: Enzyme-linked immunosorbent assay based on the Double-antibody Sandwich method for detection of Human Wilms Tumor Protein (WT1) in samples from tissue homogenates, cell lysates and other biological fluids with no significant corss-reactivity with analogues from other species. (kits-elisa.com)
  • Description: Quantitative sandwich ELISA for measuring Human Wilms tumor protein (WT1) in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids. (kits-elisa.com)
  • The National Wilms Tumor Study Group (NWTSG) and the International Society of Pediatric Oncology (SIOP) have identified several chemotherapeutic agents through clinical trials. (medscape.com)
  • We describe the incidence, severity, outcomes, and impact on subsequent treatment for patients with SH from National Wilms Tumor Study (NWTS) protocols 3-5. (gwu.edu)
  • Regional lymph node status is a key factor in the staging of pediatric renal tumors on the National Wilms' Tumor Study (NWTS). (elsevierpure.com)
  • Results shown that RAN rs7132224 AG/GG genotypes significantly increased Wilms tumor risk when compared to AA genotype (adjusted OR=1.40, 95% CI=1.01-1.95, P =0.047). (jcancer.org)
  • Furthermore, the stratification analysis revealed that patients with the rs6586250 TT genotype and carriers with 1-5 risk genotypes exhibited statistically significant associations with increased Wilms tumor risk in specific subgroups. (jcancer.org)
  • The tumor (see the images below) occurs in both hereditary and sporadic forms, and approximately 6% are bilateral. (medscape.com)
  • Wilms' tumor occurs in children up to about age 8. (chop.edu)
  • Wilms Tumor is a kidney cancer that typically occurs in young children under 9 years of age. (hopkinsmedicine.org)
  • The results from this study will help the medical community to understand better why Wilms tumor occurs, which will then help to prevent its occurrence. (lunenfeld.ca)
  • Wilms's tumor occurs when malignant cells are found in certain parts of the kidney. (drshyamvarma.com)
  • Though relatively rare, with doctors diagnosing about 500 children a year in the United States with this form of kidney cancer, Wilms's tumor is the most common cancer of the kidney that occurs in children. (beltina.org)
  • This type of tumor typically occurs in children and is rare among adults. (medicalnewstoday.com)
  • [ 49 ] It most often occurs in patients with an underlying thrombotic diathesis, including in those who are pregnant or who have a tumor, a chronic inflammatory disease, a clotting disorder, an infection, or a myeloproliferative disorder , such as polycythemia vera or paroxysmal nocturnal hemoglobinuria . (medscape.com)
  • See also the National Cancer Institute's Treatment of Wilms Tumor . (msdmanuals.com)
  • Finally, the diagnosis of Wilms' tumor is confirmed by a tissue sample. (wikipedia.org)
  • With current multimodality therapy, approximately 80-90% of children with a diagnosis of Wilms tumor survive. (medscape.com)
  • In the diagnosis of Wilms' tumor, the appearance of cancer cells under a microscope is very important. (ucsfbenioffchildrens.org)
  • A definitive diagnosis of Wilms tumor can be made only on histologic assessment of the tumor. (nih.gov)
  • Diagnosis of Wilms tumor is typically made presumptively based on the results of the imaging studies, so nephrectomy rather than biopsy is done in most patients at the time of diagnosis. (msdmanuals.com)
  • [ 2 ] Understanding of the molecular mechanisms that contribute to the development of Wilms tumor has also greatly increased, making Wilms tumorigenesis a model for the understanding of the development of other tumors. (medscape.com)
  • In recent years, it is gradually recognized that the occurrence and development of Wilms tumor is closely connected to various genetic alterations [ 7 ]. (jcancer.org)
  • MYCN amplification enhances promoted the development of Wilms tumor through multiple mechanisms [ 9 ]. (jcancer.org)
  • Although modern imaging techniques such as color Doppler sonography, helical or multidetector-row CT, and MRI have substantially improved the potential to image Wilms tumors, definitive diagnosis is still based on histology. (medscape.com)
  • Wilms tumors with anaplastic changes have unfavorable histology. (medscape.com)
  • citation needed] Wilms' tumors may be separated into two prognostic groups based on pathologic characteristics:[citation needed] Favorable - Contains well developed components mentioned above Anaplastic - Contains diffuse anaplasia (poorly developed cells) Mutations of the WT1 gene which is located on the short arm of chromosome 11 (11p13) are observed in approximately 20% of Wilms' tumors, the majority of them being inherited from the germline, while a minority are acquired somatic mutations. (wikipedia.org)
  • however, 3-7% of Wilms tumors are characterized by anaplastic changes. (medscape.com)
  • The patients with anaplastic Wilms tumor, relapsed and blastemal-type disease have a very low survival rate [ 6 ]. (jcancer.org)
  • Tumors of anaplastic cells may be diffuse through the kidney and are more difficult to treat than tumors of what pathologists call favorable cells (cancerous cells that are more pathologically normal). (beltina.org)
  • Treatment success largely correlates to the stage of the Wilms's tumor (the size of the tumor and the extent to which it has metastasized) and the characteristics of the cancer cells (anaplastic or favorable) at the time of diagnosis. (beltina.org)
  • Wilms tumor is a rare type of kidney cancer. (medlineplus.gov)
  • Wilms tumor is the most common type of kidney cancer affecting children. (chop.edu)
  • What is known about the evolution of kidney cancer is that it's similar to the development of all cancers - in that it begins with abnormal cells in the body that grow and develop into tumors. (healthline.com)
  • Wilms' tumor is unrelated to adult kidney cancer. (chop.edu)
  • Wilms tumor (WT) is a childhood kidney cancer with the highest rate of occurrence before the age of 2. (umn.edu)
  • Wilms' tumor is an unusual kidney cancer that primarily impacts children. (iytmed.com)
  • Wilms tumor (WT) - the most common childhood kidney cancer worldwide - varies in incidence and severity according to race. (vumc.org)
  • citation needed] The mesenchymal component may include cells showing rhabdomyoid differentiation or malignancy (rhabdomyosarcomatous Wilms). (wikipedia.org)
  • Wilms tumor is considered to be the most common renal malignancy among children. (jcancer.org)
  • Wilms tumor is the most common embryonal renal malignancy in children. (jcancer.org)
  • Wilms tumor is the most frequently occurring embryonal renal malignancy in children, representing approximately 7% of childhood tumors [ 1 ]. (jcancer.org)
  • There are many childhood kidney tumors, apart from Wilms' tumor, that affects children. (drshyamvarma.com)
  • The treatment for Wilms's tumor and other childhood kidney tumors varies as per the tumor types and stages. (drshyamvarma.com)
  • article{aa64b742-ed00-4c00-97b7-a2db7a4e01ad, abstract = {{In 26 consecutive patients operated for Wilms' tumour samples from the tumour were genetically analyzed. (lu.se)
  • Most nephroblastomas are on one side of the body only and are found on both sides in less than 5% of cases, although people with Denys-Drash syndrome mostly have bilateral or multiple tumors. (wikipedia.org)
  • In most cases, there will be a solitary tumor in one kidney, but 5-13% of children have bilateral tumors and 10% have multifocal tumors in a single kidney. (medscape.com)
  • A CT scan of the abdomen confirms the renal origin of the tumor and determines the presence of bilateral tumors. (medscape.com)
  • At age 7, after complaining of stomach pain, RL was diagnosed at a New Jersey hospital with bilateral Wilms tumor . (chop.edu)
  • Bilateral renal disease implies a predisposition syndrome that caused RL to develop two tumors independently of each other. (chop.edu)
  • Approximately 5%-10% of individuals with Wilms tumor have bilateral or multicentric tumors. (nih.gov)
  • The prevalence of bilateral involvement is higher in individuals with a predisposition to Wilms tumor than in those without a genetic predisposition (see Mechanisms of Predisposition to Wilms Tumor ), but unilateral, unifocal Wilms tumor does not preclude an underlying germline or epigenetic cause. (nih.gov)
  • Bilateral synchronous tumors occur in about 5% of patients. (msdmanuals.com)
  • Our nationally recognized pediatric cancer program offers a range of treatments for children with Wilms tumor and other childhood kidney cancers. (choa.org)
  • This tumor affects 1 in 10000 children and constitutes 8% of pediatric cancers [ 4 ]. (jcancer.org)
  • Wilms's tumor is among the childhood cancers doctors consider curable. (beltina.org)
  • Researchers have recently identified GENE mutations that account about 30 percent of Wilms's tumor cancers. (beltina.org)
  • In a study of ultrasound and laboratory findings in Wilms tumor survivors with a solitary kidney, signs of kidney damage were seen in 22 of 53 patients (41.5%) on ultrasonography. (medscape.com)
  • This feature is generally worse in patients who have been treated for a Wilms tumor. (chop.edu)
  • In 26 consecutive patients operated for Wilms' tumour samples from the tumour were genetically analyzed. (lu.se)
  • Intensification of therapy up front is not advisable for all patients with Wilms tumor. (ahdbonline.com)
  • Although Wilms Tumor is by far the most common solid tumor that develops in the kidney in pediatric patients, other tumors that might be present include mesoblastic nephroma (typically in infants), clear cell sarcoma, rhabdoid tumor, and renal cell carcinoma (in adolescents, though more common in adults). (hopkinsmedicine.org)
  • Patients with this mutation may have a predisposition to developing Wilms tumors. (nih.gov)
  • Fifteen percent of patients with Wilms'' tumor (WT) experience relapse. (unifesp.br)
  • Further studies are necessary to elucidate whether or not P-gp is related to relapse in patients with histologically favorable Wilms'' tumor. (unifesp.br)
  • White paper: Oncofertility in pediatric patients with Wilms tumor. (bvsalud.org)
  • The risk of infertility in Wilms tumor patients is low but increases with intensification of treatment including the use of alkylating agents , whole abdominal radiation or radiotherapy to the pelvis . (bvsalud.org)
  • Since most patients with Wilms tumors are prepubertal, potential FP methods for this group are still considered experimental. (bvsalud.org)
  • En revanche, les patients de moins de cinq ans et ceux avec un diagnostic de cancer provisoire posé initialement bénéficiaient du délai total médian le plus court. (who.int)
  • Nous suggérons de mettre en place des programmes de formation médicale continue, d'améliorer l'accès aux services de diagnostic, et de faciliter l'orientation-recours de façon à donner la priorité aux patients suspects de cancer et ainsi raccourcir le délai de diagnostic. (who.int)
  • Description: A sandwich ELISA kit for detection of Wilms Tumor Protein from Human in samples from blood, serum, plasma, cell culture fluid and other biological fluids. (kits-elisa.com)
  • The majority of people with Wilms' tumor present with an asymptomatic abdominal mass which is noticed by a family member or healthcare professional. (wikipedia.org)
  • An abdominal mass in a child may also be due to Wilms' tumor. (aafp.org)
  • Many, but not all, cases of Wilms' tumor develop from nephrogenic rests, which are fragments of tissue in or around the kidney that develop before birth and become cancerous after birth. (wikipedia.org)
  • As a result, the cancerous cells create masses called tumors . (medicalnewstoday.com)
  • Sometimes, renal tumors are benign, meaning they are not cancerous. (medicalnewstoday.com)
  • however, a minority of children with Wilms' tumor have a congenital abnormality. (wikipedia.org)
  • Children that are at risk should be screened for Wilms tumor every three months until they turn eight. (medlineplus.gov)
  • Most children with Wilms tumor will present with signs of a renal condition, including abdominal swelling or a suspicious mass. (medscape.com)
  • When used together, these agents lead to a cure in most children with this renal tumor. (medscape.com)
  • Approximately 400 children in the U.S. are diagnosed with a Wilms tumor each year. (luriechildrens.org)
  • It is the fifth most common childhood cancer and one of the most common tumors of the abdomen in children. (ucsfbenioffchildrens.org)
  • About 400 children in the United States are diagnosed with Wilms' tumor each year. (ucsfbenioffchildrens.org)
  • In children who are at risk for Wilms tumor, the presence of a rare genetic abnormality identifies children who can have a survival benefit from the augmentation or intensification of therapy. (ahdbonline.com)
  • Wilms tumor, resulting from deviant cellular proliferation and differentiation, is currently one of the most concerned tumors in children [ 1 , 2 ]. (jcancer.org)
  • It often develops in children before the age of 15 years, and the incidence of Wilms tumor varies greatly by geography and ethnicity. (jcancer.org)
  • Wilms tumor usually manifests in children 5 years of age but occasionally in older children and rarely in adults. (msdmanuals.com)
  • Most clinical trials for treatment of children with Wilms tumor have been conducted by the Children's Oncology Group (COG) in the US and by the International Society for Paediatric Oncology (SIOP) in Europe. (msdmanuals.com)
  • In children with Wilms Tumor, we propose a pathoembryologic explanation for not just the tumor, but also for the cause of associated benign ureteral and renal parenchymal aberrancies that are commonly seen in the Alagille population. (duke.edu)
  • Today, Wilms' tumor is one of the most common malignant kidney tumors in children. (master-dissertation.com)
  • About 75 percent of cases occur before age 5, and the average age of children diagnosed with Wilms' tumor is 2 to 3 years old. (chop.edu)
  • For unknown reasons, Wilms' tumor affects more black children than white children. (chop.edu)
  • What - The North American Wilms Tumor Study is a population study to identify the causes of Wilms tumor, by analyzing health and lifestyle information about children who have been diagnosed with Wilms tumor and their parents, and comparing this to children without cancer. (lunenfeld.ca)
  • Wilms's tumor is the most common tumor of the kidney in infants and children. (drshyamvarma.com)
  • Wilms's tumor is often found in 3 to 4 years of children. (drshyamvarma.com)
  • Wilms' tumor most often affects children ages 3 to 4 and becomes much less common after age 5. (iytmed.com)
  • Leukemias, lymphomas and central nervous system tumors account for more than one half of new cancer cases in children. (aafp.org)
  • The radiologist can usually easily distinguish a solid tumor in this location from benign processes such as cystic disease or infection. (hopkinsmedicine.org)
  • The presentation depends on the local effects of the solid tumor and any metastases. (aafp.org)
  • Tumor cells are found at the margin of surgical resection on microscopic examination. (medscape.com)
  • All of these tumors require surgical resection. (hopkinsmedicine.org)
  • If a tumor is suspected in your child's abdomen, don't apply pressure to this area. (ucsfbenioffchildrens.org)
  • Some researchers also stress the link of Wilms' tumor with the presence of abnormalities of the child's musculoskeletal system and anomalies of the urinary system. (master-dissertation.com)
  • If someone in your child's family has actually had Wilms' tumor, then your child has actually an increased risk of developing the disease. (iytmed.com)
  • Once your child's doctor identifies Wilms' tumor, he or she works to identify the extent (stage) of the cancer. (iytmed.com)
  • Nephrogenic rests, benign foci of embryonal kidney cells that persist abnormally into postnatal life, are considered to be Wilms tumor precursors. (nih.gov)
  • Once Wilms' tumor is suspected, an ultrasound scan is usually done first to confirm the presence of an intrarenal mass. (wikipedia.org)
  • The simplest investigation to diagnose Wilms' tumour is an ultrasound of the abdomen. (cmej.org.za)
  • Imaging tests including an ultrasound, CT scan, or MRI are done to find the location of the tumor and remove it. (drshyamvarma.com)
  • Diagnostic imaging procedures such as ULTRASOUND, COMPUTED TOMOGRAPHY (CT) SCAN, or MAGNETIC RESONANCE IMAGING (MRI) can identify the presence, size, and location of the tumor. (beltina.org)
  • They tend to be encapsulated and vascularized tumors that do not cross the midline of the abdomen. (wikipedia.org)
  • Residual nonhematogenous tumor is present after surgery, and the tumor is confined to the abdomen. (medscape.com)
  • Wilms Tumor can spread to lymph nodes in the abdomen and to the lung, and rarely to the liver, but does not spread to the bones, bone marrow, or brain. (hopkinsmedicine.org)
  • This is caused by loss or inactivation of a tumor suppressor gene called WT1 on chromosome #11. (luriechildrens.org)
  • This is also caused by loss or inactivation of a tumor suppressor gene called WT1 on chromosome #11. (luriechildrens.org)
  • Other associated genetic abnormalities include deletion of WT2 (a second Wilms tumor suppressor gene), loss of heterozygosity (LOH) of 16q and 1p, and inactivation of the WTX gene. (msdmanuals.com)
  • Signs of Wilms tumor vary widely depending on the severity of the conditions. (drshyamvarma.com)
  • The doctor will try to find possible signs of Wilms' tumor. (iytmed.com)
  • RAN, a member of RAS superfamily, and its binding partner RANBP2 are related to the progression of multiple tumors. (jcancer.org)
  • The embryonal renal cancer Wilms tumor (WT) accounts for 7% of all children's malignancies. (sequentiabiotech.com)
  • A chromosomal deletion of WT1 (a Wilms tumor suppressor gene) has been identified in some cases. (msdmanuals.com)
  • Combined genome-wide CN and SV profiles showed that tumors profoundly differ in both their types of 1q+ and genomic stability and can be grouped into WTs with co-occurring 1p−/1q+, multiple chromosomal gains or CN neutral tumors. (prinsesmaximacentrum.nl)
  • Moreover, stratified analysis indicated that RAN rs56109543 CT/TT genotypes, RAN rs7132224 AG/GG genotypes and RANBP2 rs2462788 CT/TT genotypes remarkably increased Wilms tumor susceptibility among the subgroups. (jcancer.org)
  • In conclusion, by integrating CNs, SVs and gene expression, we identified subgroups of 1q+ tumors reflecting differences in the functional effect of 1q gain, indicating that expression data is likely needed for further risk stratification of 1q+ WTs. (prinsesmaximacentrum.nl)
  • See Wilms Tumor: A Pediatric Oncology Success Story , a Critical Images slideshow, to help identify the clinical features, staging evaluation, prognostic factors, and therapeutic options for this disease. (medscape.com)
  • Briefly describe the clinical characteristics of Wilms tumor. (nih.gov)
  • The oncologist may suggest participation in a clinical trial for inoperable, stage 5, or recurrent Wilms's tumor. (beltina.org)
  • Wilms' tumor 1 gene in hematopoietic malignancies: clinical implications and future directions. (nih.gov)
  • Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization. (nih.gov)
  • Proton therapy, a more targeted form of radiation therapy, is offered at Children's Hospital of Philadelphia (CHOP) as a treatment option for Wilms' tumor. (chop.edu)
  • Radiation therapy is reserved for managing residual abdominal tumors or hematogenous metastatic disease. (medscape.com)
  • Other tumors such as rhabdoid tumors of the kidney, clear cell sarcoma of the kidney and mesoblastic nephroma occur in the kidney but are not Wilms tumors and have different prognoses and treatment. (luriechildrens.org)
  • The disease can occur at any age between infancy and 15-years-old, but, in most cases, the tumor is detected by 3 years of age. (luriechildrens.org)
  • Most cases of Wilms are considered sporadic (occur by chance) and are the result of genetic mutations that affect cell growth in the kidney. (luriechildrens.org)
  • Most cases of Wilms' tumor occur by chance (sporadic). (chop.edu)
  • Doctors usually diagnose and remove the tumor in surgery. (medlineplus.gov)
  • Surgery - Surgical removal of the tumor and kidney may be necessary for a definitive diagnosis and to determine the extent of the disease. (ucsfbenioffchildrens.org)
  • During surgery, locoregional lymph nodes are sampled for pathologic and surgical staging (see also the National Cancer Institute's Diagnostic and Staging Evaluation for Wilms Tumor ). (msdmanuals.com)
  • The tumor was previously sampled during biopsy (except for fine-needle aspiration biopsy), or the tumor spilled before or during surgery, but the spillage was confined to the renal fossa and does not involve the peritoneal surface. (medscape.com)
  • If the Wilms Tumor involves only one kidney and is not excessively large or extending far into major blood vessels, surgery will entail removal of the entire tumor along with the involved kidney. (hopkinsmedicine.org)
  • The tumor can be very large and it may spread (metastasize) to other body tissues. (luriechildrens.org)
  • If the tumor ruptures, cancer cells could spread to other tissues of the body. (ucsfbenioffchildrens.org)
  • These tumors can then invade and damage nearby tissues and organs or spread to other parts of the body. (medicalnewstoday.com)
  • Additional pathogenic variants transform nephrogenic rests into a Wilms tumor [ Fernandez et al 2021 ]. (nih.gov)
  • The initial treatment approach to unilateral Wilms tumor can vary by country or region. (msdmanuals.com)
  • If one kidney is affected (unilateral Wilms' tumor), the age at diagnosis usually is 42-47 months. (chop.edu)