Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE.
Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE DISORDERS.
Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.
A severe sometimes chronic anemia, usually macrocytic in type, that does not respond to ordinary antianemic therapy.
A myelodysplastic-myeloproliferative disease characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood.
Increased numbers of platelets in the peripheral blood. (Dorland, 27th ed)
Anemia characterized by the presence of erythroblasts containing excessive deposits of iron in the marrow.
A myeloproliferative disorder of unknown etiology, characterized by abnormal proliferation of all hematopoietic bone marrow elements and an absolute increase in red cell mass and total blood volume, associated frequently with splenomegaly, leukocytosis, and thrombocythemia. Hematopoiesis is also reactive in extramedullary sites (liver and spleen). In time myelofibrosis occurs.
A Janus kinase subtype that is involved in signaling from GROWTH HORMONE RECEPTORS; PROLACTIN RECEPTORS; and a variety of CYTOKINE RECEPTORS such as ERYTHROPOIETIN RECEPTORS and INTERLEUKIN RECEPTORS. Dysregulation of Janus kinase 2 due to GENETIC TRANSLOCATIONS have been associated with a variety of MYELOPROLIFERATIVE DISORDERS.
A de novo myeloproliferation arising from an abnormal stem cell. It is characterized by the replacement of bone marrow by fibrous tissue, a process that is mediated by CYTOKINES arising from the abnormal clone.
A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets.
Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS.
A leukemia affecting young children characterized by SPLENOMEGALY, enlarged lymph nodes, rashes, and hemorrhages. Traditionally classed as a myeloproliferative disease, it is now considered a mixed myeloproliferative-mylelodysplastic disorder.
Enlargement of the spleen.
The formation and development of blood cells outside the BONE MARROW, as in the SPLEEN; LIVER; or LYMPH NODES.
Translation products of a fusion gene derived from CHROMOSOMAL TRANSLOCATION of C-ABL GENES to the genetic locus of the breakpoint cluster region gene on chromosome 22. Several different variants of the bcr-abl fusion proteins occur depending upon the precise location of the chromosomal breakpoint. These variants can be associated with distinct subtypes of leukemias such as PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE; and NEUTROPHILIC LEUKEMIA, CHRONIC.
The soft tissue filling the cavities of bones. Bone marrow exists in two types, yellow and red. Yellow marrow is found in the large cavities of large bones and consists mostly of fat cells and a few primitive blood cells. Red marrow is a hematopoietic tissue and is the site of production of erythrocytes and granular leukocytes. Bone marrow is made up of a framework of connective tissue containing branching fibers with the frame being filled with marrow cells.
Cell surface receptors that are specific for THROMBOPOIETIN. They signal through interaction with JANUS KINASES such as JANUS KINASE 2.
Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES.
Chronic refractory anemia with granulocytopenia, and/or thrombocytopenia. Myeloblasts and progranulocytes constitute 5 to 40 percent of the nucleated marrow cells.
The GENETIC TRANSLATION products of the fusion between an ONCOGENE and another gene. The latter may be of viral or cellular origin.
Retrovirus-associated DNA sequences (abl) originally isolated from the Abelson murine leukemia virus (Ab-MuLV). The proto-oncogene abl (c-abl) codes for a protein that is a member of the tyrosine kinase family. The human c-abl gene is located at 9q34.1 on the long arm of chromosome 9. It is activated by translocation to bcr on chromosome 22 in chronic myelogenous leukemia.
A transient increase in the number of leukocytes in a body fluid.
Progenitor cells from which all blood cells derive.
A signal transducer and activator of transcription that mediates cellular responses to a variety of CYTOKINES. Stat5 activation is associated with transcription of CELL CYCLE regulators such as CYCLIN KINASE INHIBITOR P21 and anti-apoptotic genes such as BCL-2 GENES. Stat5 is constitutively activated in many patients with acute MYELOID LEUKEMIA.
A receptor tyrosine kinase that is involved in HEMATOPOIESIS. It is closely related to FMS PROTO-ONCOGENE PROTEIN and is commonly mutated in acute MYELOID LEUKEMIA.
The transference of BONE MARROW from one human or animal to another for a variety of purposes including HEMATOPOIETIC STEM CELL TRANSPLANTATION or MESENCHYMAL STEM CELL TRANSPLANTATION.
Cells contained in the bone marrow including fat cells (see ADIPOCYTES); STROMAL CELLS; MEGAKARYOCYTES; and the immediate precursors of most blood cells.
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.
A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in leukemia.
Cell changes manifested by escape from control mechanisms, increased growth potential, alterations in the cell surface, karyotypic abnormalities, morphological and biochemical deviations from the norm, and other attributes conferring the ability to invade, metastasize, and kill.
Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (MYELOID PROGENITOR CELLS) in the bone marrow and other sites.
The development and formation of various types of BLOOD CELLS. Hematopoiesis can take place in the BONE MARROW (medullary) or outside the bone marrow (HEMATOPOIESIS, EXTRAMEDULLARY).
BENZOIC ACID amides.
The classes of BONE MARROW-derived blood cells in the monocytic series (MONOCYTES and their precursors) and granulocytic series (GRANULOCYTES and their precursors).
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
A myelodysplastic/myeloproliferative disorder characterized by myelodysplasia associated with bone marrow and peripheral blood patterns similar to CHRONIC MYELOID LEUKEMIA, but cytogenetically lacking a PHILADELPHIA CHROMOSOME or bcr/abl fusion gene (GENES, ABL).
A family of 6-membered heterocyclic compounds occurring in nature in a wide variety of forms. They include several nucleic acid constituents (CYTOSINE; THYMINE; and URACIL) and form the basic structure of the barbiturates.
Family of RNA viruses that infects birds and mammals and encodes the enzyme reverse transcriptase. The family contains seven genera: DELTARETROVIRUS; LENTIVIRUS; RETROVIRUSES TYPE B, MAMMALIAN; ALPHARETROVIRUS; GAMMARETROVIRUS; RETROVIRUSES TYPE D; and SPUMAVIRUS. A key feature of retrovirus biology is the synthesis of a DNA copy of the genome which is integrated into cellular DNA. After integration it is sometimes not expressed but maintained in a latent state (PROVIRUSES).
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
Cell surface proteins that bind erythropoietin with high affinity and trigger intracellular changes influencing the behavior of cells.
Piperazines are a class of heterocyclic organic compounds containing a seven-membered ring with two nitrogen atoms at positions 1 and 4, often used in pharmaceuticals as smooth muscle relaxants, antipsychotics, antidepressants, and antihistamines, but can also be found as recreational drugs with stimulant and entactogen properties.
Neoplasms located in the bone marrow. They are differentiated from neoplasms composed of bone marrow cells, such as MULTIPLE MYELOMA. Most bone marrow neoplasms are metastatic.
Inbred C57BL mice are a strain of laboratory mice that have been produced by many generations of brother-sister matings, resulting in a high degree of genetic uniformity and homozygosity, making them widely used for biomedical research, including studies on genetics, immunology, cancer, and neuroscience.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
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.
Protein kinases that catalyze the PHOSPHORYLATION of TYROSINE residues in proteins with ATP or other nucleotides as phosphate donors.
Mapping of the KARYOTYPE of a cell.
The transfer of bacterial DNA by phages from an infected bacterium to another bacterium. This also refers to the transfer of genes into eukaryotic cells by viruses. This naturally occurring process is routinely employed as a GENE TRANSFER TECHNIQUE.
Conditions in which the abnormalities in the peripheral blood or bone marrow represent the early manifestations of acute leukemia, but in which the changes are not of sufficient magnitude or specificity to permit a diagnosis of acute leukemia by the usual clinical criteria.
Products of proto-oncogenes. Normally they do not have oncogenic or transforming properties, but are involved in the regulation or differentiation of cell growth. They often have protein kinase activity.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
All of the processes involved in increasing CELL NUMBER including CELL DIVISION.
The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
A pyrimidine analogue that inhibits DNA methyltransferase, impairing DNA methylation. It is also an antimetabolite of cytidine, incorporated primarily into RNA. Azacytidine has been used as an antineoplastic agent.
Technique using an instrument system for making, processing, and displaying one or more measurements on individual cells obtained from a cell suspension. Cells are usually stained with one or more fluorescent dyes specific to cell components of interest, e.g., DNA, and fluorescence of each cell is measured as it rapidly transverses the excitation beam (laser or mercury arc lamp). Fluorescence provides a quantitative measure of various biochemical and biophysical properties of the cell, as well as a basis for cell sorting. Other measurable optical parameters include light absorption and light scattering, the latter being applicable to the measurement of cell size, shape, density, granularity, and stain uptake.
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
An advanced phase of chronic myelogenous leukemia, characterized by a rapid increase in the proportion of immature white blood cells (blasts) in the blood and bone marrow to greater than 30%.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Very large BONE MARROW CELLS which release mature BLOOD PLATELETS.
A rare myeloproliferative disorder that is characterized by a sustained, mature neutrophilic leukocytosis. No monocytosis, EOSINOPHILIA, or basophilia is present, nor is there a PHILADELPHIA CHROMOSOME or bcr-abl fusion gene (GENES, ABL).
Bone marrow diseases, also known as hematologic or blood disorders, refer to conditions that affect the production and function of blood cells within the bone marrow, such as leukemia, lymphoma, myeloma, and aplastic anemia, potentially leading to complications like anemia, neutropenia, thrombocytopenia, and increased susceptibility to infections or bleeding.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

Should all unrelated donors for transplantation be matched? (1/18)

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250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies. (2/18)

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Risks of myeloid malignancies in patients with autoimmune conditions. (3/18)

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Myelodysplastic/myeloproliferative neoplasms. (4/18)

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Juvenile myelomonocytic leukaemia: a case series. (5/18)

Juvenile myelomonocytic leukaemia (JMML), previously known as juvenile chronic myeloid leukaemia (JCML) is a rare, myelodysplastic - myeloproliferative disease typically presenting in early childhood. This disorder is difficult to distinguish from other myeloproliferative syndrome such as chronic myeloid leukaemia (CML) because of the similarities in their clinical and bone marrow findings. However, because of its unique biological characteristics such as absolute monocytosis with dysplasia, absence of Philadelphia chromosome or BCR-ABL fusion protein, hypergammaglobulinaemia and raised fetal haemoglobin level, this disorder does not satisfy the criteria for inclusion in the CML or chronic myelomonocytic leukaemia (CMML) group, as seen in adult patients. We describe a series of three patients with JMML, who had almost similar clinical and laboratory findings, and discuss the difficulty in the classification and treatment of the disease.  (+info)

The molecular pathogenesis of myelodysplastic syndromes. (6/18)

The myelodysplastic syndromes (MDS) are frequently associated with clonally restricted cytogenetic abnormalities, but until recently, the molecular pathobiology underlying this diverse group of neoplastic bone marrow disorders has been largely obscure. During the last 10 years, many investigative groups have applied the formidable power of new molecular biology techniques to hunt for recurrent genetic alterations in MDS primary cells. Several genetic abnormalities, including mutations in RUNX1 (AML1), TET2, ASXL1 and TP53, have been discovered in a substantial fraction of MDS cases; genes rearranged or mutated less commonly in MDS include IER3, ATRX, RAS and FLT3. Furthermore, haploinsufficiency and expression changes in RPS14, miR-145 and miR-146a, CDC25c, PP2A and SPARC in the absence of point mutations have also been implicated in MDS pathobiology. A major challenge will be to determine which of these mutations are causative "drivers" either in the development or progression of MDS, which might be therapeutically important because they predict response to treatment, and which are merely "passengers" along for the ride that alter phenotype but have no effect on the natural history of the disease. While the altered cellular biology of MDS is also increasingly well-understood, many mysteries remain. Abnormalities in iron regulation, microenvironment interactions, regulation of apoptosis and oxidative damage/DNA repair may all play an important pathobiological role. By gaining a deeper understanding of the mechanisms of these complex and heterogeneous diseases, we will hopefully improve our ability to treat our patients with MDS beyond the therapies with limited effectiveness that are available at present.  (+info)

Incidence of hematologic malignancies in Europe by morphologic subtype: results of the HAEMACARE project. (7/18)

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Prognostic markers for myeloid neoplasms: a comparative review of the literature and goals for future investigation. (8/18)

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Myeloproliferative disorders (MPDs) are a group of rare, chronic blood cancers that originate from the abnormal proliferation or growth of one or more types of blood-forming cells in the bone marrow. These disorders result in an overproduction of mature but dysfunctional blood cells, which can lead to serious complications such as blood clots, bleeding, and organ damage.

There are several subtypes of MPDs, including:

1. Chronic Myeloid Leukemia (CML): A disorder characterized by the overproduction of mature granulocytes (a type of white blood cell) in the bone marrow, leading to an increased number of these cells in the blood. CML is caused by a genetic mutation that results in the formation of the BCR-ABL fusion protein, which drives uncontrolled cell growth and division.
2. Polycythemia Vera (PV): A disorder characterized by the overproduction of all three types of blood cells - red blood cells, white blood cells, and platelets - in the bone marrow. This can lead to an increased risk of blood clots, bleeding, and enlargement of the spleen.
3. Essential Thrombocythemia (ET): A disorder characterized by the overproduction of platelets in the bone marrow, leading to an increased risk of blood clots and bleeding.
4. Primary Myelofibrosis (PMF): A disorder characterized by the replacement of normal bone marrow tissue with scar tissue, leading to impaired blood cell production and anemia, enlargement of the spleen, and increased risk of infections and bleeding.
5. Chronic Neutrophilic Leukemia (CNL): A rare disorder characterized by the overproduction of neutrophils (a type of white blood cell) in the bone marrow, leading to an increased number of these cells in the blood. CNL can lead to an increased risk of infections and organ damage.

MPDs are typically treated with a combination of therapies, including chemotherapy, targeted therapy, immunotherapy, and stem cell transplantation. The choice of treatment depends on several factors, including the subtype of MPD, the patient's age and overall health, and the presence of any comorbidities.

Myelodysplastic-myeloproliferative diseases (MDS/MPD) are a group of rare and complex bone marrow disorders that exhibit features of both myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN). MDS is characterized by ineffective hematopoiesis, leading to cytopenias, and dysplastic changes in the bone marrow. MPNs are clonal disorders of the hematopoietic stem cells resulting in increased proliferation of one or more cell lines, often leading to elevated blood counts.

MDS/MPD share features of both these entities, with patients showing signs of both ineffective hematopoiesis and increased cell production. These disorders have overlapping clinical, laboratory, and morphological characteristics, making their classification challenging. The World Health Organization (WHO) has recognized several MDS/MPD subtypes, including chronic myelomonocytic leukemia (CMML), juvenile myelomonocytic leukemia (JMML), atypical chronic myeloid leukemia (aCML), and myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN, U).

The pathogenesis of MDS/MPD involves genetic mutations that affect various cellular processes, such as signal transduction, epigenetic regulation, and splicing machinery. The prognosis for patients with MDS/MPD varies depending on the specific subtype, age, performance status, and the presence of certain genetic abnormalities. Treatment options may include supportive care, chemotherapy, targeted therapy, or stem cell transplantation.

Myelodysplastic syndromes (MDS) are a group of diverse bone marrow disorders characterized by dysplasia (abnormal development or maturation) of one or more types of blood cells or by ineffective hematopoiesis, resulting in cytopenias (lower than normal levels of one or more types of blood cells). MDS can be classified into various subtypes based on the number and type of cytopenias, the degree of dysplasia, the presence of ring sideroblasts, and cytogenetic abnormalities.

The condition primarily affects older adults, with a median age at diagnosis of around 70 years. MDS can evolve into acute myeloid leukemia (AML) in approximately 30-40% of cases. The pathophysiology of MDS involves genetic mutations and chromosomal abnormalities that lead to impaired differentiation and increased apoptosis of hematopoietic stem and progenitor cells, ultimately resulting in cytopenias and an increased risk of developing AML.

The diagnosis of MDS typically requires a bone marrow aspiration and biopsy, along with cytogenetic and molecular analyses to identify specific genetic mutations and chromosomal abnormalities. Treatment options for MDS depend on the subtype, severity of cytopenias, and individual patient factors. These may include supportive care measures, such as transfusions and growth factor therapy, or more aggressive treatments, such as chemotherapy and stem cell transplantation.

Refractory anemia is a type of anemia that does not respond to typical treatments, such as iron supplements or hormonal therapy. It is often associated with various bone marrow disorders, including myelodysplastic syndromes (MDS), a group of conditions characterized by abnormal blood cell production in the bone marrow.

In refractory anemia, the bone marrow fails to produce enough healthy red blood cells, leading to symptoms such as fatigue, weakness, shortness of breath, and pale skin. The condition can be difficult to treat, and treatment options may include more aggressive therapies such as immunosuppressive drugs, chemotherapy, or stem cell transplantation.

It is important to note that the term "refractory" in this context refers specifically to the lack of response to initial treatments, rather than a specific severity or type of anemia.

Chronic myelomonocytic leukemia (CMML) is a type of cancer that affects the blood-forming cells of the bone marrow. It is characterized by an overproduction of white blood cells, specifically monocytes and myeloid cells. These abnormal cells accumulate in the bone marrow and interfere with normal blood cell production, leading to a shortage of red blood cells, platelets, and normal white blood cells.

CMML is considered a myelodysplastic/myeloproliferative neoplasm (MDS/MPN), which means it has features of both myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN). MDS are conditions in which the bone marrow does not produce enough healthy blood cells, while MPNs are conditions in which the bone marrow produces too many abnormal blood cells.

In CMML, the myelomonocytic cells may accumulate in various organs and tissues, leading to enlargement of the spleen (splenomegaly) and liver (hepatomegaly), as well as an increased risk of infections, bleeding, and anemia. The symptoms of CMML can vary widely depending on the severity of the disease and the specific organs affected.

CMML is typically a disease of older adults, with a median age at diagnosis of around 70 years. It is slightly more common in men than in women. The exact cause of CMML is not known, but it is thought to be related to genetic mutations that occur over time and are associated with aging. Treatment options for CMML depend on the stage and severity of the disease, as well as the patient's overall health and preferences.

Thrombocytosis is a medical condition characterized by an abnormally high platelet count (also known as thrombocytes) in the blood. Platelets are small cell fragments that play a crucial role in blood clotting. A normal platelet count ranges from 150,000 to 450,000 platelets per microliter of blood. Thrombocytosis is typically defined as a platelet count exceeding 450,000-500,000 platelets/µL.

Thrombocytosis can be classified into two types: reactive (or secondary) thrombocytosis and primary (or essential) thrombocytosis. Reactive thrombocytosis is more common and occurs as a response to an underlying condition, such as infection, inflammation, surgery, or certain types of cancer. Primary thrombocytosis, on the other hand, is caused by intrinsic abnormalities in the bone marrow cells responsible for platelet production (megakaryocytes), and it is often associated with myeloproliferative neoplasms like essential thrombocythemia.

While mild thrombocytosis may not cause any symptoms, higher platelet counts can increase the risk of blood clots (thrombosis) and bleeding disorders due to excessive platelet aggregation. Symptoms of thrombocytosis may include headaches, dizziness, visual disturbances, or chest pain if a blood clot forms in the brain or heart. Bleeding symptoms can manifest as easy bruising, nosebleeds, or gastrointestinal bleeding.

Treatment for thrombocytosis depends on the underlying cause and the severity of the condition. In cases of reactive thrombocytosis, treating the underlying disorder often resolves the high platelet count. For primary thrombocytosis, medications like aspirin or cytoreductive therapy (such as hydroxyurea) may be used to reduce the risk of blood clots and control platelet production. Regular monitoring of platelet counts is essential for managing this condition and preventing potential complications.

Sideroblastic anemia is a type of anemia characterized by the presence of ringed sideroblasts in the bone marrow. Ringed sideroblasts are red blood cell precursors that have an abnormal amount of iron accumulated in their mitochondria, which forms a ring around the nucleus. This results in the production of abnormal hemoglobin and impaired oxygen transport.

Sideroblastic anemia can be classified as congenital or acquired. Congenital sideroblastic anemias are caused by genetic defects that affect heme synthesis or mitochondrial function, while acquired sideroblastic anemias are associated with various conditions such as myelodysplastic syndromes, chronic alcoholism, lead toxicity, and certain medications.

Symptoms of sideroblastic anemia may include fatigue, weakness, shortness of breath, and pallor. Diagnosis is typically made through a bone marrow aspiration and biopsy, which can identify the presence of ringed sideroblasts. Treatment depends on the underlying cause but may include iron chelation therapy, vitamin B6 supplementation, or blood transfusions.

Polycythemia Vera is a type of myeloproliferative neoplasm, a group of rare blood cancers. In Polycythemia Vera, the body produces too many red blood cells, leading to an increased risk of blood clots and thickening of the blood, which can cause various symptoms such as fatigue, headache, dizziness, and itching. It can also lead to enlargement of the spleen. The exact cause of Polycythemia Vera is not known, but it is associated with genetic mutations in the JAK2 gene in most cases. It is a progressive disease that can lead to complications such as bleeding, thrombosis, and transformation into acute leukemia if left untreated.

Janus Kinase 2 (JAK2) is a tyrosine kinase enzyme that plays a crucial role in intracellular signal transduction. It is named after the Roman god Janus, who is depicted with two faces, as JAK2 has two similar phosphate-transferring domains. JAK2 is involved in various cytokine receptor-mediated signaling pathways and contributes to hematopoiesis, immune function, and cell growth.

Mutations in the JAK2 gene have been associated with several myeloproliferative neoplasms (MPNs), including polycythemia vera, essential thrombocythemia, and primary myelofibrosis. The most common mutation is JAK2 V617F, which results in a constitutively active enzyme that promotes uncontrolled cell proliferation and survival, contributing to the development of these MPNs.

Primary myelofibrosis (PMF) is a rare, chronic bone marrow disorder characterized by the replacement of normal bone marrow tissue with fibrous scar tissue, leading to impaired production of blood cells. This results in cytopenias (anemia, leukopenia, thrombocytopenia), which can cause fatigue, infection susceptibility, and bleeding tendencies. Additionally, PMF is often accompanied by the proliferation of abnormal megakaryocytes (large, atypical bone marrow cells that produce platelets) and extramedullary hematopoiesis (blood cell formation outside the bone marrow, typically in the spleen and liver).

PMF is a type of myeloproliferative neoplasm (MPN), which is a group of clonal stem cell disorders characterized by excessive proliferation of one or more types of blood cells. PMF can present with various symptoms such as fatigue, weight loss, night sweats, abdominal discomfort due to splenomegaly (enlarged spleen), and bone pain. In some cases, PMF may progress to acute myeloid leukemia (AML).

The exact cause of PMF remains unclear; however, genetic mutations are known to play a significant role in its development. The Janus kinase 2 (JAK2), calreticulin (CALR), and MPL genes have been identified as commonly mutated in PMF patients. These genetic alterations contribute to the dysregulated production of blood cells and the activation of signaling pathways that promote fibrosis.

Diagnosis of PMF typically involves a combination of clinical evaluation, complete blood count (CBC), bone marrow aspiration and biopsy, cytogenetic analysis, and molecular testing to identify genetic mutations. Treatment options depend on the individual patient's symptoms, risk stratification, and disease progression. They may include observation, supportive care, medications to manage symptoms and control the disease (such as JAK inhibitors), and stem cell transplantation for eligible patients.

Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN), a type of blood cancer characterized by the overproduction of platelets (thrombocytosis) in the bone marrow. In ET, there is an excessive proliferation of megakaryocytes, the precursor cells that produce platelets. This leads to increased platelet counts in the peripheral blood, which can increase the risk of blood clots (thrombosis) and bleeding episodes (hemorrhage).

The term "essential" is used to indicate that the cause of this condition is not known or idiopathic. ET is primarily a disease of older adults, but it can also occur in younger individuals. The diagnosis of essential thrombocythemia requires careful evaluation and exclusion of secondary causes of thrombocytosis, such as reactive conditions, inflammation, or other myeloproliferative neoplasms.

The clinical presentation of ET can vary widely among patients. Some individuals may be asymptomatic and discovered only during routine blood tests, while others may experience symptoms related to thrombosis or bleeding. Common symptoms include headaches, visual disturbances, dizziness, weakness, numbness, or tingling in the extremities, if there are complications due to blood clots in the brain or other parts of the body. Excessive bruising, nosebleeds, or blood in the stool can indicate bleeding complications.

Treatment for essential thrombocythemia is aimed at reducing the risk of thrombosis and managing symptoms. Hydroxyurea is a commonly used medication to lower platelet counts, while aspirin may be prescribed to decrease the risk of blood clots. In some cases, interferon-alpha or ruxolitinib might be considered as treatment options. Regular follow-up with a hematologist and monitoring of blood counts are essential for managing this condition and detecting potential complications early.

Chronic myelogenous leukemia (CML), BCR-ABL positive is a specific subtype of leukemia that originates in the bone marrow and involves the excessive production of mature granulocytes, a type of white blood cell. It is characterized by the presence of the Philadelphia chromosome, which is formed by a genetic translocation between chromosomes 9 and 22, resulting in the formation of the BCR-ABL fusion gene. This gene encodes for an abnormal protein with increased tyrosine kinase activity, leading to uncontrolled cell growth and division. The presence of this genetic abnormality is used to confirm the diagnosis and guide treatment decisions.

Juvenile Myelomonocytic Leukemia (JMML) is a rare and aggressive type of childhood leukemia, characterized by the overproduction of myeloid and monocytic white blood cells in the bone marrow. These cells accumulate in the bloodstream, leading to an increased risk of infection, anemia, and bleeding. JMML is different from other types of leukemia because it involves both the myeloid and monocytic cell lines, and it often affects younger children, typically those under 4 years old. The exact cause of JMML is not fully understood, but it has been linked to genetic mutations in certain genes, such as PTPN11, NRAS, KRAS, CBL, and NF1. Treatment for JMML usually involves a combination of chemotherapy, stem cell transplantation, and supportive care.

Splenomegaly is a medical term that refers to an enlargement or expansion of the spleen beyond its normal size. The spleen is a vital organ located in the upper left quadrant of the abdomen, behind the stomach and below the diaphragm. It plays a crucial role in filtering the blood, fighting infections, and storing red and white blood cells and platelets.

Splenomegaly can occur due to various underlying medical conditions, including infections, liver diseases, blood disorders, cancer, and inflammatory diseases. The enlarged spleen may put pressure on surrounding organs, causing discomfort or pain in the abdomen, and it may also lead to a decrease in red and white blood cells and platelets, increasing the risk of anemia, infections, and bleeding.

The diagnosis of splenomegaly typically involves a physical examination, medical history, and imaging tests such as ultrasound, CT scan, or MRI. Treatment depends on the underlying cause and may include medications, surgery, or other interventions to manage the underlying condition.

Extramedullary hematopoiesis (EMH) is defined as the production of blood cells outside of the bone marrow in adults. In normal physiological conditions, hematopoiesis occurs within the bone marrow cavities of flat bones such as the pelvis, ribs, skull, and vertebrae. However, certain disease states or conditions can cause EMH to occur in various organs such as the liver, spleen, lymph nodes, and peripheral blood.

EMH can be seen in several pathological conditions, including hematologic disorders such as myeloproliferative neoplasms (e.g., polycythemia vera, essential thrombocytopenia), myelodysplastic syndromes, and leukemias. It can also occur in response to bone marrow failure or infiltration by malignant cells, as well as in some non-hematologic disorders such as fibrocystic disease of the breast and congenital hemolytic anemias.

EMH may lead to organ enlargement, dysfunction, and clinical symptoms depending on the site and extent of involvement. Treatment of EMH is generally directed at managing the underlying condition causing it.

A fusion protein known as "BCR-ABL" is formed due to a genetic abnormality called the Philadelphia chromosome (derived from a reciprocal translocation between chromosomes 9 and 22). This results in the formation of the oncogenic BCR-ABL tyrosine kinase, which contributes to unregulated cell growth and division, leading to chronic myeloid leukemia (CML) and some types of acute lymphoblastic leukemia (ALL). The BCR-ABL fusion protein has constitutively active tyrosine kinase activity, which results in the activation of various signaling pathways promoting cell proliferation, survival, and inhibition of apoptosis. This genetic alteration is crucial in the development and progression of CML and some types of ALL, making BCR-ABL an important therapeutic target for these malignancies.

Bone marrow is the spongy tissue found inside certain bones in the body, such as the hips, thighs, and vertebrae. It is responsible for producing blood-forming cells, including red blood cells, white blood cells, and platelets. There are two types of bone marrow: red marrow, which is involved in blood cell production, and yellow marrow, which contains fatty tissue.

Red bone marrow contains hematopoietic stem cells, which can differentiate into various types of blood cells. These stem cells continuously divide and mature to produce new blood cells that are released into the circulation. Red blood cells carry oxygen throughout the body, white blood cells help fight infections, and platelets play a crucial role in blood clotting.

Bone marrow also serves as a site for immune cell development and maturation. It contains various types of immune cells, such as lymphocytes, macrophages, and dendritic cells, which help protect the body against infections and diseases.

Abnormalities in bone marrow function can lead to several medical conditions, including anemia, leukopenia, thrombocytopenia, and various types of cancer, such as leukemia and multiple myeloma. Bone marrow aspiration and biopsy are common diagnostic procedures used to evaluate bone marrow health and function.

Thrombopoietin receptors are a type of cell surface receptor found on megakaryocytes and platelets. They are also known as MPL (myeloproliferative leukemia virus) receptors. Thrombopoietin is a hormone that regulates the production of platelets in the body, and it binds to these receptors to stimulate the proliferation and differentiation of megakaryocytes, which are large bone marrow cells that produce platelets.

The thrombopoietin receptor is a type I transmembrane protein with an extracellular domain that contains the thrombopoietin-binding site, a single transmembrane domain, and an intracellular domain that contains several tyrosine residues that become phosphorylated upon thrombopoietin binding. This triggers a signaling cascade that leads to the activation of various downstream pathways involved in cell proliferation, differentiation, and survival.

Mutations in the thrombopoietin receptor gene have been associated with certain myeloproliferative neoplasms, such as essential thrombocythemia and primary myelofibrosis, which are characterized by excessive platelet production and bone marrow fibrosis.

Acute myeloid leukemia (AML) is a type of cancer that originates in the bone marrow, the soft inner part of certain bones where new blood cells are made. In AML, the immature cells, called blasts, in the bone marrow fail to mature into normal blood cells. Instead, these blasts accumulate and interfere with the production of normal blood cells, leading to a shortage of red blood cells (anemia), platelets (thrombocytopenia), and normal white blood cells (leukopenia).

AML is called "acute" because it can progress quickly and become severe within days or weeks without treatment. It is a type of myeloid leukemia, which means that it affects the myeloid cells in the bone marrow. Myeloid cells are a type of white blood cell that includes monocytes and granulocytes, which help fight infection and defend the body against foreign invaders.

In AML, the blasts can build up in the bone marrow and spread to other parts of the body, including the blood, lymph nodes, liver, spleen, and brain. This can cause a variety of symptoms, such as fatigue, fever, frequent infections, easy bruising or bleeding, and weight loss.

AML is typically treated with a combination of chemotherapy, radiation therapy, and/or stem cell transplantation. The specific treatment plan will depend on several factors, including the patient's age, overall health, and the type and stage of the leukemia.

Refractory anemia with excess blasts is a type of blood disorder that is characterized by the presence of increased numbers of immature blood cells, or "blasts," in the bone marrow and peripheral blood. This condition is considered a subtype of myelodysplastic syndrome (MDS), which is a group of disorders caused by abnormalities in the production of blood cells in the bone marrow.

In refractory anemia with excess blasts, the bone marrow fails to produce sufficient numbers of healthy red blood cells, white blood cells, and platelets. This results in anemia (low red blood cell count), neutropenia (low white blood cell count), and thrombocytopenia (low platelet count). Additionally, there is an increased number of blasts in the bone marrow and peripheral blood, which can indicate the development of acute myeloid leukemia (AML), a more aggressive form of blood cancer.

Refractory anemia with excess blasts is considered "refractory" because it does not respond well to treatment, including chemotherapy and stem cell transplantation. The prognosis for this condition varies depending on the severity of the disease and other individual factors, but it is generally poor, with many patients progressing to AML within a few years.

An oncogene protein fusion is a result of a genetic alteration in which parts of two different genes combine to create a hybrid gene that can contribute to the development of cancer. This fusion can lead to the production of an abnormal protein that promotes uncontrolled cell growth and division, ultimately resulting in a malignant tumor. Oncogene protein fusions are often caused by chromosomal rearrangements such as translocations, inversions, or deletions and are commonly found in various types of cancer, including leukemia and sarcoma. These genetic alterations can serve as potential targets for cancer diagnosis and therapy.

I'm happy to help! However, I believe there might be a slight mistake in your question. The correct term is "ABL" (Abelson murine leukemia viral oncogene homolog 1), which refers to a specific gene that encodes a tyrosine kinase protein. ABL genes can play a role in the development of certain types of cancer when they become mutated or dysregulated. Here's a brief medical definition:

ABL (Abelson murine leukemia viral oncogene homolog 1) gene:
A gene located on chromosome 9q34.1 that encodes a tyrosine kinase protein involved in various cellular processes, such as regulation of the cell cycle, differentiation, and apoptosis (programmed cell death). The ABL gene can become dysregulated or mutated, leading to the production of an abnormal tyrosine kinase protein that contributes to the development of certain types of cancer, most notably chronic myelogenous leukemia (CML) and acute lymphoblastic leukemia (ALL). The Philadelphia chromosome, a result of a reciprocal translocation between chromosomes 9 and 22, creates the abnormal fusion gene BCR-ABL, which encodes a constitutively active tyrosine kinase that drives the development of CML. Targeted therapy using tyrosine kinase inhibitors, such as imatinib (Gleevec), has been successful in treating CML and some forms of ALL with ABL mutations.

Leukocytosis is a condition characterized by an increased number of leukocytes (white blood cells) in the peripheral blood. A normal white blood cell count ranges from 4,500 to 11,000 cells per microliter of blood in adults. Leukocytosis is typically considered present when the white blood cell count exceeds 11,000 cells/µL. However, the definition might vary slightly depending on the laboratory and clinical context.

Leukocytosis can be a response to various underlying conditions, including bacterial or viral infections, inflammation, tissue damage, leukemia, and other hematological disorders. It is essential to investigate the cause of leukocytosis through further diagnostic tests, such as blood smears, differential counts, and additional laboratory and imaging studies, to guide appropriate treatment.

Hematopoietic stem cells (HSCs) are immature, self-renewing cells that give rise to all the mature blood and immune cells in the body. They are capable of both producing more hematopoietic stem cells (self-renewal) and differentiating into early progenitor cells that eventually develop into red blood cells, white blood cells, and platelets. HSCs are found in the bone marrow, umbilical cord blood, and peripheral blood. They have the ability to repair damaged tissues and offer significant therapeutic potential for treating various diseases, including hematological disorders, genetic diseases, and cancer.

Stat5 (Signal Transducer and Activator of Transcription 5) is a transcription factor that plays a crucial role in various cellular processes, including growth, survival, and differentiation. It exists in two closely related isoforms, Stat5a and Stat5b, which are encoded by separate genes but share significant sequence homology and functional similarity.

When activated through phosphorylation by receptor or non-receptor tyrosine kinases, Stat5 forms homodimers or heterodimers that translocate to the nucleus. Once in the nucleus, these dimers bind to specific DNA sequences called Stat-binding elements (SBEs) in the promoter regions of target genes, leading to their transcriptional activation or repression.

Stat5 is involved in various physiological and pathological conditions, such as hematopoiesis, lactation, immune response, and cancer progression. Dysregulation of Stat5 signaling has been implicated in several malignancies, including leukemias, lymphomas, and breast cancer, making it an attractive therapeutic target for these diseases.

FMS-like tyrosine kinase 3 (FLT3) is a type of receptor tyrosine kinase, which is a type of enzyme that plays a role in signal transduction within cells. FLT3 is found on the surface of certain types of blood cells, including hematopoietic stem cells and some types of leukemia cells.

FLT3 is activated when it binds to its ligand, FLT3L, leading to activation of various signaling pathways that are involved in cell survival, proliferation, and differentiation. Mutations in the FLT3 gene can lead to constitutive activation of the receptor, even in the absence of its ligand, resulting in uncontrolled cell growth and division. Such mutations are commonly found in certain types of leukemia, including acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL), and are associated with a poor prognosis.

FLT3 inhibitors are a class of drugs that are being developed to target FLT3 mutations in leukemia cells, with the goal of blocking the abnormal signaling pathways that contribute to the growth and survival of these cancer cells.

Bone marrow transplantation (BMT) is a medical procedure in which damaged or destroyed bone marrow is replaced with healthy bone marrow from a donor. Bone marrow is the spongy tissue inside bones that produces blood cells. The main types of BMT are autologous, allogeneic, and umbilical cord blood transplantation.

In autologous BMT, the patient's own bone marrow is used for the transplant. This type of BMT is often used in patients with lymphoma or multiple myeloma who have undergone high-dose chemotherapy or radiation therapy to destroy their cancerous bone marrow.

In allogeneic BMT, bone marrow from a genetically matched donor is used for the transplant. This type of BMT is often used in patients with leukemia, lymphoma, or other blood disorders who have failed other treatments.

Umbilical cord blood transplantation involves using stem cells from umbilical cord blood as a source of healthy bone marrow. This type of BMT is often used in children and adults who do not have a matched donor for allogeneic BMT.

The process of BMT typically involves several steps, including harvesting the bone marrow or stem cells from the donor, conditioning the patient's body to receive the new bone marrow or stem cells, transplanting the new bone marrow or stem cells into the patient's body, and monitoring the patient for signs of engraftment and complications.

BMT is a complex and potentially risky procedure that requires careful planning, preparation, and follow-up care. However, it can be a life-saving treatment for many patients with blood disorders or cancer.

Bone marrow cells are the types of cells found within the bone marrow, which is the spongy tissue inside certain bones in the body. The main function of bone marrow is to produce blood cells. There are two types of bone marrow: red and yellow. Red bone marrow is where most blood cell production takes place, while yellow bone marrow serves as a fat storage site.

The three main types of bone marrow cells are:

1. Hematopoietic stem cells (HSCs): These are immature cells that can differentiate into any type of blood cell, including red blood cells, white blood cells, and platelets. They have the ability to self-renew, meaning they can divide and create more hematopoietic stem cells.
2. Red blood cell progenitors: These are immature cells that will develop into mature red blood cells, also known as erythrocytes. Red blood cells carry oxygen from the lungs to the body's tissues and carbon dioxide back to the lungs.
3. Myeloid and lymphoid white blood cell progenitors: These are immature cells that will develop into various types of white blood cells, which play a crucial role in the body's immune system by fighting infections and diseases. Myeloid progenitors give rise to granulocytes (neutrophils, eosinophils, and basophils), monocytes, and megakaryocytes (which eventually become platelets). Lymphoid progenitors differentiate into B cells, T cells, and natural killer (NK) cells.

Bone marrow cells are essential for maintaining a healthy blood cell count and immune system function. Abnormalities in bone marrow cells can lead to various medical conditions, such as anemia, leukopenia, leukocytosis, thrombocytopenia, or thrombocytosis, depending on the specific type of blood cell affected. Additionally, bone marrow cells are often used in transplantation procedures to treat patients with certain types of cancer, such as leukemia and lymphoma, or other hematologic disorders.

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.

Leukemia is a type of cancer that originates from the bone marrow - the soft, inner part of certain bones where new blood cells are made. It is characterized by an abnormal production of white blood cells, known as leukocytes or blasts. These abnormal cells accumulate in the bone marrow and interfere with the production of normal blood cells, leading to a decrease in red blood cells (anemia), platelets (thrombocytopenia), and healthy white blood cells (leukopenia).

There are several types of leukemia, classified based on the specific type of white blood cell affected and the speed at which the disease progresses:

1. Acute Leukemias - These types of leukemia progress rapidly, with symptoms developing over a few weeks or months. They involve the rapid growth and accumulation of immature, nonfunctional white blood cells (blasts) in the bone marrow and peripheral blood. The two main categories are:
- Acute Lymphoblastic Leukemia (ALL) - Originates from lymphoid progenitor cells, primarily affecting children but can also occur in adults.
- Acute Myeloid Leukemia (AML) - Develops from myeloid progenitor cells and is more common in older adults.

2. Chronic Leukemias - These types of leukemia progress slowly, with symptoms developing over a period of months to years. They involve the production of relatively mature, but still abnormal, white blood cells that can accumulate in large numbers in the bone marrow and peripheral blood. The two main categories are:
- Chronic Lymphocytic Leukemia (CLL) - Affects B-lymphocytes and is more common in older adults.
- Chronic Myeloid Leukemia (CML) - Originates from myeloid progenitor cells, characterized by the presence of a specific genetic abnormality called the Philadelphia chromosome. It can occur at any age but is more common in middle-aged and older adults.

Treatment options for leukemia depend on the type, stage, and individual patient factors. Treatments may include chemotherapy, targeted therapy, immunotherapy, stem cell transplantation, or a combination of these approaches.

Gene expression regulation in leukemia refers to the processes that control the production or activation of specific proteins encoded by genes in leukemic cells. These regulatory mechanisms include various molecular interactions that can either promote or inhibit gene transcription and translation. In leukemia, abnormal gene expression regulation can lead to uncontrolled proliferation, differentiation arrest, and accumulation of malignant white blood cells (leukemia cells) in the bone marrow and peripheral blood.

Dysregulated gene expression in leukemia may involve genetic alterations such as mutations, chromosomal translocations, or epigenetic changes that affect DNA methylation patterns and histone modifications. These changes can result in the overexpression of oncogenes (genes with cancer-promoting functions) or underexpression of tumor suppressor genes (genes that prevent uncontrolled cell growth).

Understanding gene expression regulation in leukemia is crucial for developing targeted therapies and improving diagnostic, prognostic, and treatment strategies.

Neoplastic cell transformation is a process in which a normal cell undergoes genetic alterations that cause it to become cancerous or malignant. This process involves changes in the cell's DNA that result in uncontrolled cell growth and division, loss of contact inhibition, and the ability to invade surrounding tissues and metastasize (spread) to other parts of the body.

Neoplastic transformation can occur as a result of various factors, including genetic mutations, exposure to carcinogens, viral infections, chronic inflammation, and aging. These changes can lead to the activation of oncogenes or the inactivation of tumor suppressor genes, which regulate cell growth and division.

The transformation of normal cells into cancerous cells is a complex and multi-step process that involves multiple genetic and epigenetic alterations. It is characterized by several hallmarks, including sustained proliferative signaling, evasion of growth suppressors, resistance to cell death, enabling replicative immortality, induction of angiogenesis, activation of invasion and metastasis, reprogramming of energy metabolism, and evading immune destruction.

Neoplastic cell transformation is a fundamental concept in cancer biology and is critical for understanding the molecular mechanisms underlying cancer development and progression. It also has important implications for cancer diagnosis, prognosis, and treatment, as identifying the specific genetic alterations that underlie neoplastic transformation can help guide targeted therapies and personalized medicine approaches.

Leukemia, myeloid is a type of cancer that originates in the bone marrow, where blood cells are produced. Myeloid leukemia affects the myeloid cells, which include red blood cells, platelets, and most types of white blood cells. In this condition, the bone marrow produces abnormal myeloid cells that do not mature properly and accumulate in the bone marrow and blood. These abnormal cells hinder the production of normal blood cells, leading to various symptoms such as anemia, fatigue, increased risk of infections, and easy bruising or bleeding.

There are several types of myeloid leukemias, including acute myeloid leukemia (AML) and chronic myeloid leukemia (CML). AML progresses rapidly and requires immediate treatment, while CML tends to progress more slowly. The exact causes of myeloid leukemia are not fully understood, but risk factors include exposure to radiation or certain chemicals, smoking, genetic disorders, and a history of chemotherapy or other cancer treatments.

Hematopoiesis is the process of forming and developing blood cells. It occurs in the bone marrow and includes the production of red blood cells (erythropoiesis), white blood cells (leukopoiesis), and platelets (thrombopoiesis). This process is regulated by various growth factors, hormones, and cytokines. Hematopoiesis begins early in fetal development and continues throughout a person's life. Disorders of hematopoiesis can result in conditions such as anemia, leukopenia, leukocytosis, thrombocytopenia, or thrombocytosis.

Benzamides are a class of organic compounds that consist of a benzene ring (a aromatic hydrocarbon) attached to an amide functional group. The amide group can be bound to various substituents, leading to a variety of benzamide derivatives with different biological activities.

In a medical context, some benzamides have been developed as drugs for the treatment of various conditions. For example, danzol (a benzamide derivative) is used as a hormonal therapy for endometriosis and breast cancer. Additionally, other benzamides such as sulpiride and amisulpride are used as antipsychotic medications for the treatment of schizophrenia and related disorders.

It's important to note that while some benzamides have therapeutic uses, others may be toxic or have adverse effects, so they should only be used under the supervision of a medical professional.

Myeloid cells are a type of immune cell that originate from the bone marrow. They develop from hematopoietic stem cells, which can differentiate into various types of blood cells. Myeloid cells include monocytes, macrophages, granulocytes (such as neutrophils, eosinophils, and basophils), dendritic cells, and mast cells. These cells play important roles in the immune system, such as defending against pathogens, modulating inflammation, and participating in tissue repair and remodeling.

Myeloid cell development is a tightly regulated process that involves several stages of differentiation, including the commitment to the myeloid lineage, proliferation, and maturation into specific subtypes. Dysregulation of myeloid cell development or function can contribute to various diseases, such as infections, cancer, and autoimmune disorders.

Human chromosome pair 5 consists of two rod-shaped structures present in the nucleus of human cells, which contain genetic material in the form of DNA and proteins. Each member of chromosome pair 5 is a single chromosome, and humans typically have 23 pairs of chromosomes for a total of 46 chromosomes in every cell of their body (except gametes or sex cells, which contain 23 chromosomes).

Chromosome pair 5 is one of the autosomal pairs, meaning it is not a sex chromosome. Each member of chromosome pair 5 is approximately 197 million base pairs in length and contains around 800-900 genes that provide instructions for making proteins and regulating various cellular processes.

Chromosome pair 5 is associated with several genetic disorders, including cri du chat syndrome (resulting from a deletion on the short arm of chromosome 5), Prader-Willi syndrome and Angelman syndrome (both resulting from abnormalities in gene expression on the long arm of chromosome 5).

Translocation, genetic, refers to a type of chromosomal abnormality in which a segment of a chromosome is transferred from one chromosome to another, resulting in an altered genome. This can occur between two non-homologous chromosomes (non-reciprocal translocation) or between two homologous chromosomes (reciprocal translocation). Genetic translocations can lead to various clinical consequences, depending on the genes involved and the location of the translocation. Some translocations may result in no apparent effects, while others can cause developmental abnormalities, cancer, or other genetic disorders. In some cases, translocations can also increase the risk of having offspring with genetic conditions.

Chronic myeloid leukemia (CML), atypical, BCR-ABL negative is a rare subtype of CML that does not have the typical Philadelphia chromosome abnormality or the resulting BCR-ABL fusion gene. This means that the disease lacks the constitutively active tyrosine kinase that is targeted by imatinib mesylate (Gleevec) and other similar drugs.

The atypical form of CML is often characterized by a more aggressive clinical course, with a higher risk of transformation to acute leukemia compared to the classic form of CML. It can be difficult to diagnose and treat due to its rarity and heterogeneity. Treatment options may include chemotherapy, targeted therapy, stem cell transplantation, or a combination of these approaches. Regular follow-up with blood tests and bone marrow examinations is essential for monitoring the disease course and adjusting treatment as necessary.

Pyrimidines are heterocyclic aromatic organic compounds similar to benzene and pyridine, containing two nitrogen atoms at positions 1 and 3 of the six-member ring. They are one of the two types of nucleobases found in nucleic acids, the other being purines. The pyrimidine bases include cytosine (C) and thymine (T) in DNA, and uracil (U) in RNA, which pair with guanine (G) and adenine (A), respectively, through hydrogen bonding to form the double helix structure of nucleic acids. Pyrimidines are also found in many other biomolecules and have various roles in cellular metabolism and genetic regulation.

Retroviridae is a family of viruses that includes human immunodeficiency virus (HIV) and other viruses that primarily use RNA as their genetic material. The name "retrovirus" comes from the fact that these viruses reverse transcribe their RNA genome into DNA, which then becomes integrated into the host cell's genome. This is a unique characteristic of retroviruses, as most other viruses use DNA as their genetic material.

Retroviruses can cause a variety of diseases in animals and humans, including cancer, neurological disorders, and immunodeficiency syndromes like AIDS. They have a lipid membrane envelope that contains glycoprotein spikes, which allow them to attach to and enter host cells. Once inside the host cell, the viral RNA is reverse transcribed into DNA by the enzyme reverse transcriptase, which is then integrated into the host genome by the enzyme integrase.

Retroviruses can remain dormant in the host genome for extended periods of time, and may be reactivated under certain conditions to produce new viral particles. This ability to integrate into the host genome has also made retroviruses useful tools in molecular biology, where they are used as vectors for gene therapy and other genetic manipulations.

A missense mutation is a type of point mutation in which a single nucleotide change results in the substitution of a different amino acid in the protein that is encoded by the affected gene. This occurs when the altered codon (a sequence of three nucleotides that corresponds to a specific amino acid) specifies a different amino acid than the original one. The function and/or stability of the resulting protein may be affected, depending on the type and location of the missense mutation. Missense mutations can have various effects, ranging from benign to severe, depending on the importance of the changed amino acid for the protein's structure or function.

Erythropoietin receptors are cell surface proteins found on immature red blood cell precursors in the bone marrow. They bind to the hormone erythropoietin (EPO), which is produced by the kidneys in response to low oxygen levels in the blood. When EPO binds to its receptor, it activates a signaling pathway that promotes the survival, proliferation, and differentiation of red blood cell precursors, leading to increased production of red blood cells. This process is critical for maintaining adequate oxygen delivery to tissues in the body. Mutations in the erythropoietin receptor gene can lead to various blood disorders, including anemia and polycythemia.

Piperazines are a class of heterocyclic organic compounds that contain a seven-membered ring with two nitrogen atoms at positions 1 and 4. They have the molecular formula N-NRR' where R and R' can be alkyl or aryl groups. Piperazines have a wide range of uses in pharmaceuticals, agrochemicals, and as building blocks in organic synthesis.

In a medical context, piperazines are used in the manufacture of various drugs, including some antipsychotics, antidepressants, antihistamines, and anti-worm medications. For example, the antipsychotic drug trifluoperazine and the antidepressant drug nefazodone both contain a piperazine ring in their chemical structure.

However, it's important to note that some piperazines are also used as recreational drugs due to their stimulant and euphoric effects. These include compounds such as BZP (benzylpiperazine) and TFMPP (trifluoromethylphenylpiperazine), which have been linked to serious health risks, including addiction, seizures, and death. Therefore, the use of these substances should be avoided.

Bone marrow neoplasms are a type of cancer that originates in the bone marrow, which is the spongy tissue inside bones where blood cells are produced. These neoplasms can be divided into two main categories: hematologic (or liquid) malignancies and solid tumors.

Hematologic malignancies include leukemias, lymphomas, and multiple myeloma. Leukemias are cancers of the white blood cells, which normally fight infections. In leukemia, the bone marrow produces abnormal white blood cells that do not function properly, leading to an increased risk of infection, anemia, and bleeding.

Lymphomas are cancers of the lymphatic system, which helps to fight infections and remove waste from the body. Lymphoma can affect the lymph nodes, spleen, thymus gland, and bone marrow. There are two main types of lymphoma: Hodgkin's lymphoma and non-Hodgkin's lymphoma.

Multiple myeloma is a cancer of the plasma cells, which are a type of white blood cell that produces antibodies to help fight infections. In multiple myeloma, abnormal plasma cells accumulate in the bone marrow and produce large amounts of abnormal antibodies, leading to bone damage, anemia, and an increased risk of infection.

Solid tumors of the bone marrow are rare and include conditions such as chordomas, Ewing sarcomas, and osteosarcomas. These cancers originate in the bones themselves or in other tissues that support the bones, but they can also spread to the bone marrow.

Treatment for bone marrow neoplasms depends on the type and stage of cancer, as well as the patient's overall health. Treatment options may include chemotherapy, radiation therapy, stem cell transplantation, targeted therapy, or a combination of these approaches.

C57BL/6 (C57 Black 6) is an inbred strain of laboratory mouse that is widely used in biomedical research. The term "inbred" refers to a strain of animals where matings have been carried out between siblings or other closely related individuals for many generations, resulting in a population that is highly homozygous at most genetic loci.

The C57BL/6 strain was established in 1920 by crossing a female mouse from the dilute brown (DBA) strain with a male mouse from the black strain. The resulting offspring were then interbred for many generations to create the inbred C57BL/6 strain.

C57BL/6 mice are known for their robust health, longevity, and ease of handling, making them a popular choice for researchers. They have been used in a wide range of biomedical research areas, including studies of cancer, immunology, neuroscience, cardiovascular disease, and metabolism.

One of the most notable features of the C57BL/6 strain is its sensitivity to certain genetic modifications, such as the introduction of mutations that lead to obesity or impaired glucose tolerance. This has made it a valuable tool for studying the genetic basis of complex diseases and traits.

Overall, the C57BL/6 inbred mouse strain is an important model organism in biomedical research, providing a valuable resource for understanding the genetic and molecular mechanisms underlying human health and disease.

Animal disease models are specialized animals, typically rodents such as mice or rats, that have been genetically engineered or exposed to certain conditions to develop symptoms and physiological changes similar to those seen in human diseases. These models are used in medical research to study the pathophysiology of diseases, identify potential therapeutic targets, test drug efficacy and safety, and understand disease mechanisms.

The genetic modifications can include knockout or knock-in mutations, transgenic expression of specific genes, or RNA interference techniques. The animals may also be exposed to environmental factors such as chemicals, radiation, or infectious agents to induce the disease state.

Examples of animal disease models include:

1. Mouse models of cancer: Genetically engineered mice that develop various types of tumors, allowing researchers to study cancer initiation, progression, and metastasis.
2. Alzheimer's disease models: Transgenic mice expressing mutant human genes associated with Alzheimer's disease, which exhibit amyloid plaque formation and cognitive decline.
3. Diabetes models: Obese and diabetic mouse strains like the NOD (non-obese diabetic) or db/db mice, used to study the development of type 1 and type 2 diabetes, respectively.
4. Cardiovascular disease models: Atherosclerosis-prone mice, such as ApoE-deficient or LDLR-deficient mice, that develop plaque buildup in their arteries when fed a high-fat diet.
5. Inflammatory bowel disease models: Mice with genetic mutations affecting intestinal barrier function and immune response, such as IL-10 knockout or SAMP1/YitFc mice, which develop colitis.

Animal disease models are essential tools in preclinical research, but it is important to recognize their limitations. Differences between species can affect the translatability of results from animal studies to human patients. Therefore, researchers must carefully consider the choice of model and interpret findings cautiously when applying them to human diseases.

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.

Protein-Tyrosine Kinases (PTKs) are a type of enzyme that plays a crucial role in various cellular functions, including signal transduction, cell growth, differentiation, and metabolism. They catalyze the transfer of a phosphate group from ATP to the tyrosine residues of proteins, thereby modifying their activity, localization, or interaction with other molecules.

PTKs can be divided into two main categories: receptor tyrosine kinases (RTKs) and non-receptor tyrosine kinases (NRTKs). RTKs are transmembrane proteins that become activated upon binding to specific ligands, such as growth factors or hormones. NRTKs, on the other hand, are intracellular enzymes that can be activated by various signals, including receptor-mediated signaling and intracellular messengers.

Dysregulation of PTK activity has been implicated in several diseases, such as cancer, diabetes, and inflammatory disorders. Therefore, PTKs are important targets for drug development and therapy.

Karyotyping is a medical laboratory test used to study the chromosomes in a cell. It involves obtaining a sample of cells from a patient, usually from blood or bone marrow, and then staining the chromosomes so they can be easily seen under a microscope. The chromosomes are then arranged in pairs based on their size, shape, and other features to create a karyotype. This visual representation allows for the identification and analysis of any chromosomal abnormalities, such as extra or missing chromosomes, or structural changes like translocations or inversions. These abnormalities can provide important information about genetic disorders, diseases, and developmental problems.

Genetic transduction is a process in molecular biology that describes the transfer of genetic material from one bacterium to another by a viral vector called a bacteriophage (or phage). In this process, the phage infects one bacterium and incorporates a portion of the bacterial DNA into its own genetic material. When the phage then infects a second bacterium, it can transfer the incorporated bacterial DNA to the new host. This can result in the horizontal gene transfer (HGT) of traits such as antibiotic resistance or virulence factors between bacteria.

There are two main types of transduction: generalized and specialized. In generalized transduction, any portion of the bacterial genome can be packaged into the phage particle, leading to a random assortment of genetic material being transferred. In specialized transduction, only specific genes near the site where the phage integrates into the bacterial chromosome are consistently transferred.

It's important to note that genetic transduction is not to be confused with transformation or conjugation, which are other mechanisms of HGT in bacteria.

"Preleukemia" is a term that was used historically to describe conditions characterized by the presence of preleukemic cells or certain genetic changes that could potentially progress into acute leukemia. However, this terminology has largely been replaced in modern medicine.

Currently, the preferred terms are "clonal hematopoiesis" or "clonal cytopenias of undetermined significance (CCUS)" for conditions where there is an expansion of blood cells with certain genetic mutations but without evidence of progression to acute leukemia.

One example of this is a condition called "clonal hematopoiesis of indeterminate potential" (CHIP), which is defined by the presence of certain somatic mutations in hematopoietic stem cells, but without evidence of cytopenias or progression to malignancy.

It's important to note that not all individuals with CHIP will develop leukemia, and many may never experience any symptoms related to this condition. However, the presence of CHIP has been associated with an increased risk of hematologic cancers, as well as cardiovascular disease.

Proto-oncogene proteins are normal cellular proteins that play crucial roles in various cellular processes, such as signal transduction, cell cycle regulation, and apoptosis (programmed cell death). They are involved in the regulation of cell growth, differentiation, and survival under physiological conditions.

When proto-oncogene proteins undergo mutations or aberrations in their expression levels, they can transform into oncogenic forms, leading to uncontrolled cell growth and division. These altered proteins are then referred to as oncogene products or oncoproteins. Oncogenic mutations can occur due to various factors, including genetic predisposition, environmental exposures, and aging.

Examples of proto-oncogene proteins include:

1. Ras proteins: Involved in signal transduction pathways that regulate cell growth and differentiation. Activating mutations in Ras genes are found in various human cancers.
2. Myc proteins: Regulate gene expression related to cell cycle progression, apoptosis, and metabolism. Overexpression of Myc proteins is associated with several types of cancer.
3. EGFR (Epidermal Growth Factor Receptor): A transmembrane receptor tyrosine kinase that regulates cell proliferation, survival, and differentiation. Mutations or overexpression of EGFR are linked to various malignancies, such as lung cancer and glioblastoma.
4. Src family kinases: Intracellular tyrosine kinases that regulate signal transduction pathways involved in cell proliferation, survival, and migration. Dysregulation of Src family kinases is implicated in several types of cancer.
5. Abl kinases: Cytoplasmic tyrosine kinases that regulate various cellular processes, including cell growth, differentiation, and stress responses. Aberrant activation of Abl kinases, as seen in chronic myelogenous leukemia (CML), leads to uncontrolled cell proliferation.

Understanding the roles of proto-oncogene proteins and their dysregulation in cancer development is essential for developing targeted cancer therapies that aim to inhibit or modulate these aberrant signaling pathways.

Chromosome aberrations refer to structural and numerical changes in the chromosomes that can occur spontaneously or as a result of exposure to mutagenic agents. These changes can affect the genetic material encoded in the chromosomes, leading to various consequences such as developmental abnormalities, cancer, or infertility.

Structural aberrations include deletions, duplications, inversions, translocations, and rings, which result from breaks and rearrangements of chromosome segments. Numerical aberrations involve changes in the number of chromosomes, such as aneuploidy (extra or missing chromosomes) or polyploidy (multiples of a complete set of chromosomes).

Chromosome aberrations can be detected and analyzed using various cytogenetic techniques, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH). These methods allow for the identification and characterization of chromosomal changes at the molecular level, providing valuable information for genetic counseling, diagnosis, and research.

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.

Monosomy is a type of chromosomal abnormality in which there is only one copy of a particular chromosome instead of the usual pair in a diploid cell. In monosomy, an individual has one less chromosome than the normal diploid number (46 chromosomes) due to the absence of one member of a chromosome pair. This condition arises from the loss of one chromosome in an egg or sperm during gamete formation or at conception.

Examples of monosomy include Turner syndrome, which is characterized by the presence of only one X chromosome (45,X), and Cri du Chat syndrome, which results from a deletion of a portion of the short arm of chromosome 5 (46,del(5)(p15.2)). Monosomy can lead to developmental abnormalities, physical defects, intellectual disabilities, and various health issues depending on the chromosome involved.

Azacitidine is a medication that is primarily used to treat myelodysplastic syndrome (MDS), a type of cancer where the bone marrow does not produce enough healthy blood cells. It is also used to treat acute myeloid leukemia (AML) in some cases.

Azacitidine is a type of drug known as a hypomethylating agent, which means that it works by modifying the way that genes are expressed in cancer cells. Specifically, azacitidine inhibits the activity of an enzyme called DNA methyltransferase, which adds methyl groups to the DNA molecule and can silence the expression of certain genes. By inhibiting this enzyme, azacitidine can help to restore the normal function of genes that have been silenced in cancer cells.

Azacitidine is typically given as a series of subcutaneous (under the skin) or intravenous (into a vein) injections over a period of several days, followed by a rest period of several weeks before the next cycle of treatment. The specific dosage and schedule may vary depending on the individual patient's needs and response to treatment.

Like all medications, azacitidine can have side effects, which may include nausea, vomiting, diarrhea, constipation, fatigue, fever, and decreased appetite. More serious side effects are possible, but relatively rare, and may include bone marrow suppression, infections, and liver damage. Patients receiving azacitidine should be closely monitored by their healthcare provider to manage any side effects that may occur.

Flow cytometry is a medical and research technique used to measure physical and chemical characteristics of cells or particles, one cell at a time, as they flow in a fluid stream through a beam of light. The properties measured include:

* Cell size (light scatter)
* Cell internal complexity (granularity, also light scatter)
* Presence or absence of specific proteins or other molecules on the cell surface or inside the cell (using fluorescent antibodies or other fluorescent probes)

The technique is widely used in cell counting, cell sorting, protein engineering, biomarker discovery and monitoring disease progression, particularly in hematology, immunology, and cancer research.

A "knockout" mouse is a genetically engineered mouse in which one or more genes have been deleted or "knocked out" using molecular biology techniques. This allows researchers to study the function of specific genes and their role in various biological processes, as well as potential associations with human diseases. The mice are generated by introducing targeted DNA modifications into embryonic stem cells, which are then used to create a live animal. Knockout mice have been widely used in biomedical research to investigate gene function, disease mechanisms, and potential therapeutic targets.

A blast crisis is a severe and life-threatening complication that can occur in patients with certain types of blood cancer, such as chronic myelogenous leukemia (CML) or acute lymphoblastic leukemia (ALL). It is characterized by the rapid growth and accumulation of immature blood cells, known as blasts, in the bone marrow and peripheral blood.

In a blast crisis, the blasts crowd out normal blood-forming cells in the bone marrow, leading to a significant decrease in the production of healthy red blood cells, white blood cells, and platelets. This can result in symptoms such as anemia, fatigue, infection, easy bruising or bleeding, and an enlarged spleen.

Blast crisis is often treated with aggressive chemotherapy, targeted therapy, or stem cell transplantation to eliminate the abnormal blasts and restore normal blood cell production. The prognosis for patients in blast crisis can be poor, depending on the type of leukemia, the patient's age and overall health, and the response to treatment.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

Megakaryocytes are large, specialized bone marrow cells that are responsible for the production and release of platelets (also known as thrombocytes) into the bloodstream. Platelets play an essential role in blood clotting and hemostasis, helping to prevent excessive bleeding during injuries or trauma.

Megakaryocytes have a unique structure with multilobed nuclei and abundant cytoplasm rich in organelles called alpha-granules and dense granules, which store various proteins, growth factors, and enzymes necessary for platelet function. As megakaryocytes mature, they extend long cytoplasmic processes called proplatelets into the bone marrow sinuses, where these extensions fragment into individual platelets that are released into circulation.

Abnormalities in megakaryocyte number, size, or function can lead to various hematological disorders, such as thrombocytopenia (low platelet count), thrombocytosis (high platelet count), and certain types of leukemia.

Chronic neutrophilic leukemia (CNL) is a rare type of chronic leukemia, which is a cancer of the white blood cells. Specifically, CNL is characterized by an overproduction of mature neutrophils, a type of white blood cell that helps fight infection.

The medical definition of CNL, as per the World Health Organization (WHO) classification, is as follows:

Chronic Neutrophilic Leukemia (CNL): A clonal hematopoietic stem cell disorder characterized by sustained peripheral blood neutrophilia >25 × 109/L, with a left shift and often toxic granulations, without evidence of another myeloid neoplasm. The bone marrow shows hypercellularity with an increase in mature neutrophils, including bands, segmented forms, and occasionally toxic granulations or Döhle bodies. There is no significant increase in blasts, promyelocytes, or other immature granulocytic precursors (

Bone marrow diseases, also known as hematologic disorders, are conditions that affect the production and function of blood cells in the bone marrow. The bone marrow is the spongy tissue inside bones where all blood cells are produced. There are various types of bone marrow diseases, including:

1. Leukemia: A cancer of the blood-forming tissues, including the bone marrow. Leukemia causes the body to produce large numbers of abnormal white blood cells, which can crowd out healthy blood cells and impair their function.
2. Lymphoma: A cancer that starts in the lymphatic system, which is part of the immune system. Lymphoma can affect the bone marrow and cause an overproduction of abnormal white blood cells.
3. Multiple myeloma: A cancer of the plasma cells, a type of white blood cell found in the bone marrow. Multiple myeloma causes an overproduction of abnormal plasma cells, which can lead to bone pain, fractures, and other complications.
4. Aplastic anemia: A condition in which the bone marrow does not produce enough new blood cells. This can lead to symptoms such as fatigue, weakness, and an increased risk of infection.
5. Myelodysplastic syndromes (MDS): A group of disorders in which the bone marrow does not produce enough healthy blood cells. MDS can lead to anemia, infections, and bleeding.
6. Myeloproliferative neoplasms (MPNs): A group of disorders in which the bone marrow produces too many abnormal white or red blood cells, or platelets. MPNs can lead to symptoms such as fatigue, itching, and an increased risk of blood clots.

Treatment for bone marrow diseases depends on the specific condition and its severity. Treatment options may include chemotherapy, radiation therapy, stem cell transplantation, or targeted therapies that target specific genetic mutations.

Human chromosome pair 7 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 identical in size, shape, and banding pattern and are therefore referred to as homologous chromosomes.

Chromosome 7 is one of the autosomal chromosomes, meaning it is not a sex chromosome (X or Y). It is composed of double-stranded DNA that contains approximately 159 million base pairs and around 1,200 genes. Chromosome 7 contains several important genes associated with human health and disease, including those involved in the development of certain types of cancer, such as colon cancer and lung cancer, as well as genetic disorders such as Williams-Beuren syndrome and Charcot-Marie-Tooth disease.

Abnormalities in chromosome 7 have been linked to various genetic conditions, including deletions, duplications, translocations, and other structural changes. These abnormalities can lead to developmental delays, intellectual disabilities, physical abnormalities, and increased risk of certain types of cancer.

"Myelodysplastic/myeloproliferative disease , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". ... Myelodysplastic-myeloproliferative diseases are a category of hematological malignancies which have characteristics of both ... On the other hand, when there is abnormal differentiation of cells of myeloid cell line, it is referred to as myelodysplastic.[ ... myelodysplastic and myeloproliferative conditions. When a hematological malignancy is characterised by normal differentiation ...
Within this category, lymphomas are more common than leukemias.[citation needed] Myelodysplastic-myeloproliferative diseases ... myelodysplastic syndromes and myeloproliferative diseases are myeloid in origin. A subgroup of them are more severe and are ... Myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis Myelodysplastic/myeloproliferative ... of undetermined significance Heavy chain diseases Mu heavy chain disease Gamma heavy chain disease Alpha heavy chain disease ...
... myelodysplastic/myeloproliferative diseases (MDS/MPD), and aggressive systemic mastocytosis (ASM). Imatinib is considered to be ... myelodysplastic/myeloproliferative diseases associated with platelet-derived growth factor receptor gene rearrangements, ... Note: It is not a cure, it is an effective way to control and prevent the disease from progressing. The U.S. Food and Drug ... Instead, it is a chronic therapy that helps to control the disease and prevent it from progressing. Some patients may need to ...
... the myelodysplastic/myeloproliferative neoplasms (MDS/MPN), reflecting the disease's neoplastic nature. Other diseases in this ... Myeloproliferative CMML (>13x109 monocytes/L) has a reduced survival compared with myelodysplastic CMML. A platelet count of ... The myeloid neoplasms contain acute and chronic leukemias, myelodysplastic syndromes (MDSs) and myeloproliferative neoplasms ( ... Cazzola M, Malcovati L, Invernizzi R (2011). "Myelodysplastic/myeloproliferative neoplasms". Hematology. 2011: 264-72. doi: ...
... which bind on erythrocytes and induce membrane expansion myeloproliferative disease myelodysplastic syndrome which most ... Gastrointestinal diseases that may cause macrocytosis include celiac disease (severe sensitivity to gluten from wheat and other ... hypothyroidism chronic obstructive pulmonary disease (COPD) aplastic anemia reticulocytosis (commonly from hemolysis or a ... grains that causes intestinal damage) and Crohn's disease (inflammatory bowel disease that can affect any part of the ...
The ICCC is made up of 12 categories: Leukemias, myeloproliferative diseases, and myelodysplastic diseases Lymphomas and ...
... myelodysplastic syndromes, myeloproliferative neoplasms, mast cell diseases and stem cell transplantation. In the past, Turner ...
... pleomorphic M9975/3 Myeloproliferative disease, NOS Chronic Myeloproliferative disease, unclassifiable Myelodysplastic / ... M9762/3 Heavy chain disease, NOS Alpha heavy chain disease Mu heavy chain disease Gamma heavy chain disease Franklin disease ... Paget disease of breast M8541/3 Paget disease and infiltrating duct carcinoma of breast (C50._) M8542/3 Paget disease, ... M9768/1 T-gamma lymphoproliferative disease M9769/1 Immunoglobulin deposition disease Systemic light chain disease Primary ...
... these include Hodgkin disease, certain T-cell lymphomas, acute myeloid leukemia, the myelodysplastic syndromes, many cases of ... and certain cases of T-lymphoblastic leukemia/lymphoma-associated or myelodysplastic-myeloproliferative syndrome-associated ... Behçet's disease, IgG4-related disease, inflammatory bowel diseases, sarcoidosis, bullous pemphigoid, and dermatitis ... IgG4-related disease or Immunoglobulin G4-related disease is a condition dacryoadenitis, sialadenitis, lymphadentitis, and ...
... or the myelodysplastic syndrome. Transient myeloproliferative disease, also termed transient leukemia, involves the abnormal ... By 1900, leukemia was viewed as a family of diseases as opposed to a single disease. By 1947, Boston pathologist Sidney Farber ... The disease is restricted to individuals with Down syndrome or genetic changes similar to those in Down syndrome, develops in a ... With this drug, more than 90% of people will be able to keep the disease in check for at least five years, so that CML becomes ...
... of these patients suffered fatal disease progression or relapse. Five patients with the myeloproliferative form of the disease ... and one case presented with findings of a combined Myelodysplastic syndrome/myeloproliferative neoplasm. Best treatments for ... Four of 6 patients with ETV6-FLT3-related disease, a patient with GOLGB1-FLT3-related disease, and a patient with TRIP11-FLT3- ... eosinophilia was found in all patients with myelogenous and myeloproliferative diseases but only 4 of 13 with acute lymphocytic ...
... myeloproliferative neoplasms and myelodysplastic syndrome. Deucravacitinib is currently in clinical trials for psoriatic ... It is used in the treatment of cancer and inflammatory diseases such as rheumatoid arthritis and various skin conditions. A ... Cucurbitacin I (JSI-124). CHZ868 - a type II JAK2 inhibitor for use in myeloproliferative disorders and chronic myelomonocytic ... Janus kinase inhibitors can be classed in several overlapping classes: they are immunomodulators, they are DMARDs (disease- ...
... myelodysplastic syndrome) Engulfment of inflammatory cells by histiocytes, which is a hallmark of Rosai-Dorfman disease It is ... Hodgkin's disease, leukemia, acute and chronic myeloid leukemia, non-Hodgkin's lymphoma, myeloproliferative disorders, ... Demicco EG, Rosenberg AE, Björnsson J, Rybak LD, Unni KK, Nielsen GP (July 2010). "Primary Rosai-Dorfman Disease of Bone: A ... Emperipolesis in Rosai-Dorfman disease highlighted by S-100 staining. Emperipolesis: Megakaryocyte containing a segmented ...
... and myelodysplastic syndromes (MDS). AML, MDS, or myeloproliferative disorder (MPD) with a high incidence of secondary diseases ... It is considered to be a rare disease and usually is not inherited. The mechanism of 18p formation appears to be the result of ... "Huntington's disease: The discovery of the Huntingtin gene". Nature Education. Retrieved 5 May 2014. Muehlbauer PA, Schuler MJ ... gene which is predictive of an adult-onset autosomal disorder called Huntington's disease (HD). Mutations in chromosome 4 are ...
"Myelodysplastic/Myeloproliferative Diseases Treatment - National Cancer Institute". 2003-09-24. Tiu R. V.; Sekeres M. A. (2014 ... The World Health Organization has included JMML as a subcategory of myelodysplastic and myeloproliferative disorders. The ... Juvenile myelomonocytic leukemia (JMML) is a myelodysplastic and myeloproliferative disorder. The diagnostic criteria were ... "The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease". Blood. ...
... as well as myeloproliferative disease, leukemia and other conditions affecting the marrow. IGs may also be increased in steroid ... Neutropenia also occurs in many hematologic disorders, such as leukemia and myelodysplastic syndrome, and in a variety of ... Koepke, JA (1977). p. 2. Gibson, CL (1906). "The value of the differential leukocyte count in acute surgical diseases". Annals ... Neutrophilia may also occur in myeloproliferative disorders. Neutropenia, meaning a low neutrophil count, may occur as a ...
Lymphocyte-variant hypereosinophilia Hodgkin disease, certain T-cell lymphomas, acute myeloid leukemia, the myelodysplastic ... and T-lymphoblastic leukemia/lymphoma-associated or myelodysplastic-myeloproliferative syndrome-associated eosinophilias; IgG4- ... Allergic and autoimmune diseases: non-specific treatment regimens used for these diseases may be useful in place of a simple ... Examples of diseases underlying eosinophilic myocarditis that are recommended for treatments directed at the underlying disease ...
Myeloproliferative disorder Transient myeloproliferative disease Coagulopathies (disorders of bleeding and coagulation) ... Acquired pure red cell aplasia Decreased numbers of cells Myelodysplastic syndrome Myelofibrosis Neutropenia (decrease in the ... Rh disease (Rh D) ABO hemolytic disease of the newborn Anti-Kell hemolytic disease of the newborn Rhesus c hemolytic disease of ... Hematologic diseases are disorders which primarily affect the blood & blood-forming organs. Hematologic diseases include rare ...
... implications for the myeloproliferative disorders and myelodysplastic syndromes". British Journal of Haematology. 97 (4): 920- ... In addition to its effects on those who would otherwise be considered healthy, CHIP may have implications in certain disease ... In a given year, a tiny fraction of the general population will develop a hematologic cancer such as myelodysplastic syndrome ( ... Clonal hematopoiesis may occur in people who are completely healthy but has also been found in people with hematologic diseases ...
Somatic TET2 mutations are frequently observed in myelodysplastic syndromes (MDS), myeloproliferative neoplasms (MPN), MDS/MPN ... Not only were damaging TET2 mutations found in disease, but the levels of 5hmC were also affected, linking the molecular ... June 2009). "Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms". ... July 2009). "Detection of mutant TET2 in myeloid malignancies other than myeloproliferative neoplasms: CMML, MDS, MDS/MPN and ...
Transient myeloproliferative disease is the abnormal proliferation of a clone of noncancerous megakaryoblasts in the liver and ... Fever, weight loss and splenomegaly should point to a myelodysplastic/myeloproliferative neoplasm (MDS/MPN) rather than pure ... Patnaik, Mrinal M.; Lasho, Terra (2020-12-04). "Evidence-Based Minireview: Myelodysplastic syndrome/myeloproliferative neoplasm ... Myelodysplastic syndrome at Curlie Fenaux, P., et al. (2014). Myelodysplastic syndromes: ESMO Clinical Practice Guidelines for ...
... targets the CD33 protein, which is expressed in AML and other myeloproliferative diseases, but does not appear in ... as a treatment for those with myelodysplastic syndromes. Lintuzumab had been in mid-stage clinical trial when Seattle Genetics ... and the European Medicines Agency had granted lintuzumab orphan drug status for treatment of AML and myelodysplastic syndromes ...
It is a heterogeneous disorder belonging to the group of myelodysplastic/myeloproliferative (MDS/MPN) syndromes. In aCML many ... specific somatic mutations of this gene were discovered in people with aCML and related diseases. These mutations, which are ... the molecular pathogenesis of this disease has remained elusive and the outcome dismal (median survival 37 months) with no ...
A classic symptom of polycythemia vera (and the related myeloproliferative disease essential thrombocythemia) is ... "Treatment-related risk factors for transformation to acute myeloid leukemia and myelodysplastic syndromes in myeloproliferative ... Peptic ulcer disease is also common in patients with polycythemia vera; most likely due to increased histamine from mast cells ... The overall incidence in the Minnesota population was 1.9 per 100,000 person-years, and the disease was more common in men than ...
The disease in Down syndrome occurs in 20% to 30% of individuals who previously had transient myeloproliferative disorder. ... pre-leukemic condition and is classified as a myelodysplastic syndrome disease. Acute megakaryoblastic leukemia is a subtype of ... These diseases include transient myeloproliferative disorder occurring in Down syndrome, acute megakaryoblastic leukemia ... The disease is regarded as a uniformly genetic disease although the genes causing it have not been identified in ~30% of cases ...
Hasle H (December 2016). "Myelodysplastic and myeloproliferative disorders of childhood". Hematology. American Society of ... The trial had 8 disease-free survivors and obtained an overall survival 76 months with a range of 18 to 95 months. An NIH ... In about 70% of the cases, the inactivating GATA2 mutations found in Familial MDS/AML are associated with advanced disease and ... Congenital neutropenia refers to an assorted group of diseases that share a common set of signs and symptoms, viz., neutropenia ...
Patients with "preleukemic" conditions, such as myelodysplastic syndromes or myeloproliferative syndromes, who develop a ... 2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6. Karlin L, Itti E, Pautas ... Chloromas may occur in patients with a diagnosis of myelodysplastic syndrome (MDS) or myeloproliferative syndromes (MPS) (e.g. ... Where disease development or markers indicate progresses to acute promyleocytic leukemia (AML3) treatment should be tailored to ...
Copy number gains in germline samples may be disease-associated or may be a benign copy number variant. When seen in tumor ... Myelodysplastic syndrome (MDS) has remarkable clinical, morphological, and genetic heterogeneity. Cytogenetics play a decisive ... Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) including polycythemia vera, essential thrombocythemia, ... Four main genetic aberrations are recognized in CLL cells that have a major impact on disease behavior. Deletions of part of ...
Purton has studied the role of Homeobox A1 (HOXA1) in myelodysplastic syndrome (MDS), a blood cell disease that results in bone ... 1 June 2007). "A microenvironment-induced myeloproliferative syndrome caused by retinoic acid receptor gamma deficiency". Cell ... Issues surrounding the regulation of hematopoietic stem cells can lead to diseases such as leukaemia. Purton investigates the ... where she studied cells in the bone marrow microenvironment and how they could regulate myeloproliferative-like disorders. ...
This aberrant localization has been linked to the development of the disease, and is associated with improved clinical outcomes ... myelodysplastic syndrome, and acute myelogenous leukemia. Heterozygous mice for NPM1 are vulnerable to tumor development. In ... subsequent NPM1 mutations drive progression into overt myeloproliferative neoplasm. NPM1 has been shown to interact with AKT1, ...
"Myelodysplastic/myeloproliferative disease , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". ... Myelodysplastic-myeloproliferative diseases are a category of hematological malignancies which have characteristics of both ... On the other hand, when there is abnormal differentiation of cells of myeloid cell line, it is referred to as myelodysplastic.[ ... myelodysplastic and myeloproliferative conditions. When a hematological malignancy is characterised by normal differentiation ...
Myelodysplastic syndrome (MDS) in childhood encompasses a diverse group of bone marrow disorders that share a common clonal ... A pediatric approach to the WHO classification of myelodysplastic and myeloproliferative diseases. Leukemia. 2003 Feb. 17(2): ... Leukemia, Myelodysplastic Syndromes, and Myeloproliferative Neoplasms 2.5 CME / CE / ABIM MOC Credits ... Myelodysplastic and myeloproliferative disorders of childhood: a study of 167 patients. Blood. 1999 Jan 15. 93(2):459-66. [QxMD ...
myelodysplastic / myeloproliferative diseases (MDS/MPD).. These are a group of blood diseases in which some blood cells start ... These are blood diseases in which some blood cells, named "eosinophils", start growing out of control. ... nausea, diarrhoea, vomiting, abdominal pain, fever (signs of inflammatory bowel disease). *severe rash, red skin, blistering of ...
Myelodysplastic/Myeloproliferative Diseases. *refractory anemia with excess blasts. *refractory anemia with excess blasts in ... DISEASE CHARACTERISTICS:. - Cytologically proven myelodysplastic syndrome (MDS) of one of the following types:. - Refractory ... See Disease Characteristics. Hepatic:. - Not specified. Renal:. - Not specified. Other:. - No prior acute allergic reactions to ... of patients with myelodysplastic syndrome who have undergone T-cell-depleted CD34+. augmented allogeneic bone marrow ...
Myelodysplastic-myeloproliferative diseases (MDS/MPD) + Chronic Myelomonocytic Leukemia (CMML) + Atypical Chronic Myeloid ... Bone marrow tumorus diseases + Myelodysplastic Syndrome (MDS) + Refractory Cytopenia with Unilineage Dysplasia (RCUD) ...
Myelodysplastic / myeloproliferative diseases associated with platelet-derived growth factor receptor gene re-arrangements ...
... myelodysplastic/myeloproliferative disease in 1 (Wilkinson et al., 2003), refractory anemia with excess of blasts in 1 (RAEB) ( ... A myeloproliferative disease in two infants associated with eosinophilia and chromosome t(1;5) translocation.. Darbyshire PJ et ... Disease. Myeloproliferative disorders (MPD) with eosinophilia (or chronic eosinophilic leukemia (CEL) and sporadic cases with ... Cloning of the t(1;5)(q23;q33) in a myeloproliferative disorder associated with eosinophilia: involvement of PDGFRB and ...
Myelodysplastic syndrome, Myeloma, Myeloproliferative disease, Nasopharyngeal cancer, Non-Hodgkins lymphoma, Novel ... Immunophenotyping, Immunotherapy, Leukemia and lymphoma care, Lymphoma, Multiple myeloma, Myelodysplastic syndrome, Myeloma, ...
Cytogenetic survey of sixty-one patients with preleukemic syndrome including myeloproliferative and myelodysplastic diseases.. ... Deletion of 7p as the sole abnormality occurs in disorders with myelodysplastic or myeloproliferative features and acute ... Clinical and cytogenetic significance of myelodysplastic syndromes with disease evolution.. Ohyashiki K et al. ... Myeloproliferative disorders mainly: chronic myeloproliferative disorder in 9 (balanced sex ratio; 4 males and 5 females aged ...
... in precancerous blood and bone marrow diseases (myelodysplastic/myeloproliferative syndrome), and 1.5% in central nervous ... DNA methylation: A key player in gene expression variation and disease manifestation ... DNA methylation: A key player in gene expression variation and disease manifestation ...
... in precancerous blood and bone marrow diseases (myelodysplastic/myeloproliferative syndrome), and 1.5% in central nervous ...
... guidelines as a good starting point for future needed efforts to guide cancer screening in patients with rheumatic diseases. ... Cyclophosphamide increases the risk for bladder cancer, myelodysplastic syndrome, and myeloproliferative disorders. Both ... Some of the diseases that rheumatologists treat are associated with malignancies. The most well known of these is the ... The association between myositis and malignancy was described in a review article in 1976; we now know that there are disease ...
Other causes of left shift can include severe inflammatory disease, myelodysplastic syndromes, myeloproliferative disease, ... Infectious Disease. Case count doubles and recalls expand in Salmonella outbreak linked to cantaloupes and pre-cut fruit ... Infectious Disease. Researchers show SARS-Cov-2 infection affects energy stores in the body, causing organ failure ... The Centers for Disease Control and Prevention (CDC) defines sepsis as the bodys "overwhelming and life-threatening response ...
... myeloproliferative disease (1, 3.8%), myelodysplastic syndrome (1, 3.8%), or aplastic anemia (1, 3.8%). At time of bloodstream ... Emerging Infectious Diseases. 2014;20(7):1235-1236. doi:10.3201/eid2007.130094.. APA. Pagano, L., Caira, M., Trecarichi, E., ... The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. ... Centers for Disease Control and Prevention. CDC twenty four seven. Saving Lives, Protecting People ...
... myelodysplastic/myeloproliferative diseases (MDS/MPD), hyper eosinophilic syndrome (HES) and aggressive systemic mastocytosis ( ...
Coagulation Disorders, Leukemia, Myelodysplastic Disease, Myeloid Differentiation, Myeloproliferative Disease, Polycythemia, ... There have been many incredible advances in technology to better understand the mechanisms of disease and several new agents to ... and how RNA modifications contribute to leukemia and myelodysplastic syndromes (conditions caused by blood-forming cells in the ... treat disease," she says. She is also director of the DeLuca Center for Innovation in Hematology Research, which has ...
The chronic myeloproliferative neoplasms (MPN) and myelodysplastic syndromes (MDS) are new types of cancers unknown to many ... Awatef Shehab-El-Deen Module 2: Latest update on Myelodysplastic Syndromes (MDS) Dr. John M. Storring Overall Learning ... Latest update on Myeloproliferative Neoplasms (MPN) Dr. Jaroslav F. Prchal and Dr. ... Cancer is a devastating disease that requires keeping abreast of the latest research developments. ...
Myelodysplastic/myeloproliferative Disease Whats New Last Posted: Jan 01, 2011 * Myelodysplastic/myeloproliferative disease ... Selected Rare Diseases. Browse full list of rare diseases A-Z *Alpha-1 Antitrypsin Deficiency ... Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it ...
VEENAT is also used to treat myelodysplastic/myeloproliferative disease, hypereosinophilic syndrome (HES) and/or chronic ... HEART DISEASE. VEENAT should be used with caution in patients with active heart disease. Ask your doctor for advice. ... VEENAT should be used with caution in patients with impaired liver function or active liver disease. Ask your doctor for advice ... VEENAT should be used with caution in patients with active kidney disease. Ask your doctor for advice. ...
Myelodysplastic-Myeloproliferative Diseases; Stomatitis; Erythema Nodosum; Anemia, Sideroblastic; Uterine Neoplasms; Lymphoma, ... Stills Disease, Adult-Onset; Macrophage Activation Syndrome; Rare Diseases; Arthritis, Juvenile; Immune System Diseases; Lupus ... Multiple Sclerosis; Crohn Disease. Details Tadekinig alfa (AB2 Bio). Phase 3 Clinical. Ab2 Bio Ltd. Macrophage Activation ... National Institute Of Allergy And Infectious Diseases (Niaid). Immuvac, Leprovac, Mycidac-C. India. Carcinoma, Non-Small-Cell ...
Myelodysplastic Syndromes. Myelodysplastic/Myeloproliferative Diseases. Myelogenous Leukemia, Chronic. Myeloid Leukemia, Adult ... Cancer is the general name for a group of more than 100 diseases in which cells in a part of the body begin to grow out of ... Chronic Myeloproliferative Disorders. Clear Cell Sarcoma of Tendon Sheaths. Colon Cancer. Colorectal Cancer, Childhood. ... Myeloproliferative Disorders, Chronic. Nasal Cavity and Paranasal Sinus Cancer. Nasopharyngeal Cancer. Nasopharyngeal Cancer, ...
Myelodysplastic-Myeloproliferative Diseases. Clonal myeloid disorders that possess both dysplastic and proliferative features ... Disease Progression. The worsening of a disease over time. This concept is most often used for chronic and incurable diseases ... Dog Diseases. Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, WOLVES; FOXES ... FollicularLeiomyosarcomaMyelodysplastic-Myeloproliferative DiseasesSpinal NeoplasmsPeripheral Nervous System NeoplasmsCerebral ...
Condition or disease:Leukemia. Lymphoma. Myelodysplastic Syndromes. Myelodysplastic/Myeloproliferative Diseases. Intervention/ ... 2. Incidence of Recurrent Disease [at day 100 post transplant]. Number of patients that have disease recurrence. ... 9. Hodgkins disease, relapsed or refractory to standard treatments.. 2. Patients must be less than or equal to 55 years of age ... Number of patients that develop acute graft-versus-host disease by grades 0-4. Grade O is no development of GVHD. Grade 1-4 is ...
Myelodysplastic/myeloproliferative diseases Hyper Eosinophilic Syndrome (HES) or Chronic Eosinophilic Leukemia (CEL) ...
Myeloproliferative neoplasm. *Myelodysplastic/myeloproliferative disease. *Lymphoid hemopathy. *Autoimmune lymphoproliferative ...
Truncating mutations in the chromatin remodeler ASXL1 (ASXL1MT) are associated with a high-risk disease phenotype with ... represents an attractive disease model since it is characterized by both myelodysplastic and myeloproliferative features, while ... Differences in classification schemata for myelodysplastic/myeloproliferative overlap neoplasms *Mrinal M. Patnaik ... Investigations employing different disease models have shed light on the transcriptomic and epigenetic changes associated with ...
... and myelodysplastic/myeloproliferative diseases (MDS/MPD).. Imatinib has risks and benefits. If you have any concerns about ... Blood diseases where "eosinophils" (a type of blood cell) start to grow uncontrolled. ... Myelodysplastic/myeloproliferative diseases (MDS/MPD).. Blood diseases where certain blood cells start to grow uncontrolled. ...
Also, it is used in adults only to treat myelodysplastic/myeloproliferative diseases (MDS/MPD) (a group of blood diseases in ... myelodysplastic/myeloproliferative diseases (MDS/MPD). *hyper-eosinophilic syndrome (HES) and/or chronic eosinophilic leukaemia ... myelodysplastic/myeloproliferative diseases hyper eosinophilic syndrome or chronic eosinophilic leukaemia, Gastrointestinal ... HEART DISEASE. IMAT 400MG TABLET should be used with caution in patients with heart problem. Consult your doctor before taking ...
Adult patients with myelodysplastic/myeloproliferative diseases (MDS/MPD) associated with PDGFR (platelet-derived growth factor ... Patients with cardiac disease, risk factors for cardiac disease, or history of renal failure should be monitored carefully, and ... MDS/MPD disease and systemic mastocytosis may be associated with high eosinophil levels. Performance of an echocardiogram and ... the occurrence of these cytopenias is dependent on the stage of disease and is more frequent in patients with accelerated phase ...
  • Myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms are heterogeneous disorders. (nih.gov)
  • JAK2 mutation testing and karyotyping are routinely used for diagnosis but have not been incorporated into risk stratification in Philadelphia chromosome-negative myeloproliferative neoplasms. (nih.gov)
  • 1. Molecular landscape and clonal architecture of adult myelodysplastic/myeloproliferative neoplasms. (nih.gov)
  • 5. Genomic aberrations of myeloproliferative and myelodysplastic/myeloproliferative neoplasms in chronic phase and during disease progression. (nih.gov)
  • 6. Examining disease boundaries: Genetics of myelodysplastic/myeloproliferative neoplasms. (nih.gov)
  • 7. Making sense of the myelodysplastic/myeloproliferative neoplasms overlap syndromes. (nih.gov)
  • 8. Atypical chronic myeloid leukemia is clinically distinct from unclassifiable myelodysplastic/myeloproliferative neoplasms. (nih.gov)
  • 11. Definitions, Biology, and Current Therapeutic Landscape of Myelodysplastic/Myeloproliferative Neoplasms. (nih.gov)
  • 13. Comparison and Implications of Mutational Profiles of Myelodysplastic Syndromes, Myeloproliferative Neoplasms, and Myelodysplastic/Myeloproliferative Neoplasms: A Meta-Analysis. (nih.gov)
  • 15. Chronic myeloid neoplasms harboring concomitant mutations in myeloproliferative neoplasm driver genes (JAK2/MPL/CALR) and SF3B1. (nih.gov)
  • 17. Myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T): Mayo-Moffitt collaborative study of 158 patients. (nih.gov)
  • The focus of the company lies on myeloma, lymphoma, leukemia and myeloid diseases (such as myelodysplastic syndrome, beta-thalassemia and myeloproliferative neoplasms). (bms.com)
  • Myelodysplastic/myeloproliferative neoplasms are a group of diseases in which the bone marrow makes too many white blood cells. (uamshealth.com)
  • As a Center of Excellence for MDS and myeloproliferative neoplasms, Rush offers advanced, personalized care for these rare blood and bone marrow disorders. (rush.edu)
  • Myelodysplastic syndromes (MDS) and myeloproliferative neoplasms are rare stem cell disorders. (rush.edu)
  • Your treatment plan may include a wide variety of standard treatment options for myelodysplastic syndromes and myeloproliferative neoplasms, including stem cell transplantation . (rush.edu)
  • Rush has myelodysplastic syndromes (MDS) myeloproliferative neoplasms providers in Chicago and Lisle. (rush.edu)
  • Is one of a related group of blood cancers known as "myeloproliferative neoplasms" (MPNs) in which cells in the bone marrow that produce the blood cells develop and function abnormally. (lls.org)
  • The main bone marrow diseases are leukaemia, aplastic anaemia, myelodysplastic syndromes, and myeloproliferative neoplasms. (whizolosophy.com)
  • These include refractory cytopenia of childhood, myelodysplastic syndrome with ring sideroblasts, chronic myelomonocytic leukaemia, atypical chronic myeloid leukaemia, and myelodysplastic/myeloproliferative neoplasms. (whizolosophy.com)
  • Atypical chronic myeloid leukemia (aCML) is relatively uncommon and is considered within the category of myeloproliferative/myelodysplastic neoplasms. (mdanderson.org)
  • We sequenced 111 genes across 738 patients with MDS or closely related neoplasms (including chronic myelomonocytic leukemia and MDS-myeloproliferative neoplasms) to explore the role of acquired mutations in MDS biology and clinical phenotype. (ox.ac.uk)
  • It may occur as a result of many diseases named polycythemia Vera, myeloproliferative neoplasms, myelodysplastic syndromes, hypereosinophillic syndrome, juvenile xanthogranuloma, lactose intolerance and last but not the least hepatitis C. The aquagenic pruritus may be induced by drugs. (healthcaretip.com)
  • Join us for a live, in-person learning event in your area that is specifically designed to help patients take a closer look at the different types of myeloproliferative neoplasms (MPNs), a group of rare blood cancers. (mpn-advocates.net)
  • Myelodysplastic syndrome (MDS) in childhood is a diverse group of clonal bone marrow disorders characterized by peripheral cytopenia, dysplastic changes in the bone marrow, and ineffective hematopoiesis. (medscape.com)
  • 2. Genomics of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes. (nih.gov)
  • 9. The utility of a myeloid mutation panel for the diagnosis of myelodysplastic syndrome and myelodysplastic/myeloproliferative neoplasm. (nih.gov)
  • There are seven types of MDS (myelodysplastic syndrome). (moffitt.org)
  • After identifying which type of MDS a patient has, a physician will then determine whether it is a primary or secondary myelodysplastic syndrome. (moffitt.org)
  • Also called myelodysplastic syndrome. (uamshealth.com)
  • Search our clinical trials for those related to Myelodysplastic Syndrome. (uamshealth.com)
  • Note that every provider listed below may not perform or prescribe all treatments or procedures related to Myelodysplastic Syndrome. (uamshealth.com)
  • Note that the treatment of Myelodysplastic Syndrome may not be performed at every location listed below. (uamshealth.com)
  • Chronic Myelomonocytic Leukemia (CMML) is a hematologic malignancy considered a subtype of Myelodysplastic Syndrome (MDS)/Myeloproliferative Disease (MPD). (longdom.org)
  • This study evaluates the incidence and clinical impact of red cell alloimmunization in a large cohort of patients with myelodysplastic syndrome registered in the statewide South Australian-MDS registry. (haematologica.org)
  • In conclusion, this study characterizes alloimmunization in a large cohort of patients with myelodysplastic syndrome and demonstrates a signficant increase in red cell transfusion requirements following alloimmunization, most probably due to development of additional alloantibodies and autoantibodies, resulting in subclinical/clinical hemolysis. (haematologica.org)
  • Pourabdollah M , Chang H. Myelodysplastic syndrome with excess blasts-2 associated with erythroid predominance. (uottawa.ca)
  • Rush University Medical Center is recognized as a Center of Excellence by the Myelodysplastic Syndrome (MDS) Foundation for its MDS expertise and research. (rush.edu)
  • In a small number of patients, the disease may transform to myelofibrosis, acute myeloid leukemia or, less frequently, myelodysplastic syndrome. (lls.org)
  • Plank, L 2016-08-01 00:00:00 Myelodysplastic syndrome (MDS) represent very heterogenous group of clonal stem cell bone marrow disorders with ineffective haematopoesis leading to cytopenias in peripheral blood and increased risk of blastic transformation and evolution of acute myeloid leukemia. (sagepub.com)
  • Key words: Myelodysplastic syndrome, types of myelodysplastic syndrome, risk stratification, adults, children INTRODUCTION Myelodysplastic syndromes (MDS) represent group of clonal stem cell bone marrow (BM) disorders with ineffective haematopoesis leading to cytopenias in peripheral blood (PB) and increased risk of blastic transformation and evolution of acute myeloid leukemia (AML) (1,2). (sagepub.com)
  • Refractory cytopenia of childhood is a type of myelodysplastic syndrome caused by a genetic defect in the formation of red blood cells, white blood cells, and platelets. (whizolosophy.com)
  • Myelodysplastic syndrome with ring sideroblasts (MDS-RS) is a type of myelodysplastic syndrome caused by a defect in the formation of red blood cells. (whizolosophy.com)
  • He specializes in the care of patients with acute leukemia, myelodysplastic syndrome (MDS), and myeloproliferative diseases. (healthtree.org)
  • A myelodysplastic syndrome (MDS) or another BM disorder, but also an overt autoimmune or other inflammatory disease, may develop during follow-up in these patients. (ashpublications.org)
  • In some of these patients, the follow-up may reveal an underlying pre-phase of a myelodysplastic syndrome (MDS) or another BM disorder 10 , 11 or an occult autoimmune (or other inflammatory) disease. (ashpublications.org)
  • Identifying secondary diseases that could lead to glomerulonephritis is essential while evaluating patients with nephrotic syndrome. (hippokratia.gr)
  • In particular, all cytogenetic, molecular genetic, and molecular cytogenetic methods, as well as microarray-based comparative genomic hybridization (a-CGH) are applied to the following research topics: - Constitutional and acquired chromosome variability in Shwachman Diamond syndrome (SDS): SDS may be considered as the prototype of Mendelian diseases predisposing to myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML). (cibiotech.it)
  • Mutator genes in the pathogenesis of myelodysplastic and myeloproliferative diseases: in particular in inherited bone marrow failure syndromes (IBMFS) (Fanconi Anaemia, severe congenital neutropenia, included Kostmann syndrome, Congenital Amegakaryocytic Thrombocytopenia (CAMT), "Familial Platelet Disorder with propension to AML" (FPD/AML)), in familial MDS/AML, and in non-hereditary bone marrow failure syndromes. (cibiotech.it)
  • PRIMARY OBJECTIVES: I. To determine the better of two treosulfan-based conditioning regimens in patients with myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), by comparing 6-month progression-free survival. (druglib.com)
  • Chronic myelomonocytic leukemia (CMML) is a clonal myeloid neoplasm, denoted by overlapping myelodysplastic and myeloproliferative features, with poor overall survival and high transformation rate to acute myeloid leukemia. (nih.gov)
  • 4. Atypical chronic myeloid leukemia and myelodysplastic/myeloproliferative neoplasm, not otherwise specified: 2023 update on diagnosis, risk stratification, and management. (nih.gov)
  • It is usually associated with a diagnosis of relapsed or de novo acute myeloid leukaemia, acute lymphoblastic transformation of a myelodysplastic/myeloproliferative neoplasm, or can occur as isolated myeloid sarcoma. (jeleu.com)
  • Chronic myelomonocytic leukaemia (CMML) is a type of myeloproliferative neoplasm in which the body produces too many white blood cells and abnormal monocytes. (whizolosophy.com)
  • Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative neoplasm with approximately 200 cases reported to date. (mdanderson.org)
  • Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm resulting from Philadelphia (Ph) chromosome translocation 1 . (hippokratia.gr)
  • Most research work concerns karyotype variability and gene mutations/polymorphisms in neoplasm pathogenesis, with particular interest in myelo- and lympho-proliferative diseases, and in conditions predisposing to these. (cibiotech.it)
  • Cite this: Topics in Pediatric Leukemia -- Myelodysplastic and Myeloproliferative Disorders of Childhood - Medscape - Mar 10, 2005. (medscape.com)
  • This repository contains data from tumors (bone marrow or peripheral blood) from Acute Myeloid Leukemia (AML) and several other related disorders - myelodysplastic syndromes (MDS), secondary AML (sAML) and therapy-related AML (tAML). (nih.gov)
  • 16. Hybrid or Mixed Myelodysplastic/Myeloproliferative Disorders - Epidemiological Features and Overview. (nih.gov)
  • Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE DISORDERS . (nih.gov)
  • I provide high quality care - including the newest targeted therapies and stem cell transplantation - to patients with both malignant and benign diseases of the blood and immunologic disorders. (visakhapatnamdoctors.com)
  • Myelodysplastic syndromes are a group of disorders in which the bone marrow does not make enough healthy blood cells, and symptoms may include fatigue, paleness, easy bruising, and frequent infections. (whizolosophy.com)
  • His research interests focus on developmental therapeutics for patients with acute myeloid leukemia (AML), acute lymphoblastic leukemia (ALL), MDS, and myeloproliferative disorders, including chronic myelogenous leukemia (CML). (healthtree.org)
  • The CBC test is often recommended by doctors as the initial blood test to determine diseases or disorders. (apollo247.com)
  • There are also two different types of leukemia - chronic myelomonocytic leukemia (CMML) and juvenile myelomonocytic leukemia (JMML) - that can be classified as mixed myelodysplastic/myeloproliferative diseases. (moffitt.org)
  • Patients with Acute Myeloid Leukemia (AML), Aplastic Anemia (AA), Chronic Lymphocytic Leukemia (CLL), Chronic Myelomonocytic Leukemia (CMML), Graft vs Host Disease (GVHD), Myelodysplastic Syndrome (MDS), Myeloproliferative Neoplasms (MPNs), Pediatric blood cancers and or bone marrow failure diseases, Paroxysmal Nocturnal Hemoglobinuria (PNH), Pure Red Cell Aplasia (PRCA) and other related diseases are invited to join. (mpn-advocates.net)
  • Phase I study of oral azacitidine in myelodysplastic syndromes, chronic myelomonocytic leukemia, and acute myeloid leukemia. (cancer.org)
  • Nguyen PL, Hanson CA. Chronic Myelomonocytic Leukemia and Myelodysplastic/Myeloproliferative Overlap Syndromes. (cancer.org)
  • Diagnosis: Patients must have had histologic verification of juvenile myelomonocytic leukemia (JMML) at original diagnosis and currently have relapsed or refractory disease. (nih.gov)
  • The LLS mission: Cure leukemia, lymphoma, Hodgkin disease and myeloma, and improve the quality of life of patients and their families. (lls.org)
  • Both these conditions are of concern as patients with either disease lack a specific molecular biomarker and may transform to acute leukemia. (mdanderson.org)
  • Monoclonal B-cell lymphocytosis (MBL) was first recognized as an indolent variant of chronic lymphocytic leukemia (CLL) in patients with Rai stage 0 disease. (best-lab.org)
  • Myelodysplastic syndromes (MDS) are a heterogeneous group of chronic hematological malignancies characterized by dysplasia, ineffective hematopoiesis and a variable risk of progression to acute myeloid leukemia. (ox.ac.uk)
  • Imatinib, generic Gleevec is a prescription medicine used to treat certain type of cancer such as acute lymphoblastic leukemia, chronic myeloid leukemia, gastrointestinal stromal tumors, and myelodysplastic or myeloproliferative diseases. (com.bd)
  • Leukemias, myeloproliferative diseases and myelodysplastic diseases affected 20,744 (28.8%) individuals. (bvsalud.org)
  • Dr. Altman's clinical and research interests include acute and chronic leukemias, anemia, myelodysplastic syndromes, and myeloproliferative diseases. (oncnet.com)
  • Determine the safety and efficacy of sirolimus when administered with tacrolimus and methotrexate for the prevention of acute graft-versus-host disease (GVHD) in patients with hematological malignancies undergoing hematopoietic stem cell transplantation from unrelated donors. (knowcancer.com)
  • However, some studies have also shown increased risk of acute and chronic graft-versus-host disease (GVHD), as compared to bone marrow. (nih.gov)
  • The presence of leukocytosis and splenomegaly provided important clues for the paraneoplastic association of MG. The literature suggests that the majority of CML patients develop MG (10/13 cases) after stem cell transplantation complicated with graft-versus-host disease (GVHD) due to GVHD-related glomerulopathy mediated by immune complexes. (hippokratia.gr)
  • Determine the incidence of grades II-IV acute graft-versus-host disease (GVHD). (druglib.com)
  • Before using Imatib (Imatinib), tell your doctor if you are allergic to any drugs, or if you have liver disease, kidney disease, congestive heart failure, a history of stomach ulcer or bleeding or if you are receiving chemotherapy. (generic-meds-store.com)
  • This review, following a thorough Medline search of pertinent published literature, discusses the diagnostic criteria, the pathogenesis, and the complex genetic landscape of the disease. (nih.gov)
  • Coupled with inferences on subclonal mutations, these data suggest a hypothesis of genetic "predestination," in which early driver mutations, typically affecting genes involved in RNA splicing, dictate future trajectories of disease evolution with distinct clinical phenotypes. (ox.ac.uk)
  • We are committed every day to further research into autoimmune diseases to develop therapies that improve patients' lives. (bms.com)
  • Our results suggest that incorporation of JAK2 mutation testing and karyotyping allows for monitoring of disease progression with prognostic and therapeutic implications. (nih.gov)
  • The patients showed no disease progression, even after a period of more than 24 years. (best-lab.org)
  • Germing U, Gattermann, Strupp C. Validation of the WHO proposals for a new classification of primary myelodysplastic syndromes: a retrospective analysis of 1600 patients. (cancer.org)
  • Managing iron overload in patients with myelodysplastic syndromes with oral deferasirox therapy. (cancer.org)
  • For pediatric patients with refractory cytopenia, certain cytogenetic abnormalities, or malignant transformation, hematopoietic stem cell transplantation (HSCT) from a matched related or unrelated donor early in the course of the disease is the treatment of choice. (medscape.com)
  • Patients with refractory or relapsed JMML must have had at least one cycle of intensive frontline therapy or at least 2 cycles of a DNA demethylating agent with persistence of disease, defined by clinical symptoms or the presence of a clonal abnormality. (nih.gov)
  • and multiple myeloma (MM). Due to the lack of early detection markers and the nature of current diagnostics, many patients are not identified until advanced disease stages when treatment options are less efficacious and may result in higher mortality rates. (nih.gov)
  • Today, we continue our research to meet the needs of patients with severe cardiovascular diseases such as arterial thrombosis, certain types of heart failure, and cardiomyopathy. (bms.com)
  • Our mission is to research, develop, and make available innovative medicines to patients with serious diseases. (bms.com)
  • Disease-modifying therapy was associated with a lower risk of alloimmunization while alloimmunization was significantly higher in patients with a revised International Prognostic Scoring System classification of Very Low, Low or Intermediate risk compared to those with a High or Very High risk ( P =0.03). (haematologica.org)
  • Adult patients with myelodysplastic/myeloproliferative diseases (MDS/MPD) associated with PDGFR gene rearrangements. (generic-meds-store.com)
  • Not all patients with these diseases require a transplant. (bmtinfonet.org)
  • Thus, analysis of oncogenic mutations in large, well-characterized cohorts of patients illustrates the interconnections between the cancer genome and disease biology, with considerable potential for clinical application. (ox.ac.uk)
  • Pre-formed fibrils are an invaluable preclinical model for exploring pathogenesis of neurological diseases through aggregation of misfolded proteins. (acrobiosystems.com)
  • Myelodysplastic-myeloproliferative diseases are a category of hematological malignancies which have characteristics of both myelodysplastic and myeloproliferative conditions. (wikipedia.org)
  • Other Malignancies: Pre-malignant and malignant diseases have been reported. (drugs.com)
  • We are developing medicines for diseases such as psoriasis, inflammatory bowel disease, and multiple sclerosis. (bms.com)
  • Is a rare blood disease in which the bone marrow produces too many platelets. (lls.org)
  • A more recent classification has been proposed that addresses specific diagnostic problems and the rarity of specific disease entities (such as the adult MPS) in children. (medscape.com)
  • Treatment continues in the absence of acute graft-vs-host disease or unacceptable toxicity. (knowcancer.com)
  • Primary, or de novo, myelodysplastic syndromes are far more common than secondary myelodysplastic syndromes, accounting for approximately 80 percent of all cases. (moffitt.org)
  • Secondary thrombocytosis" is the term for a condition that results in very high platelet counts in the blood in reaction to another problem in the patient's body, such as inflammatory disease, removal of the spleen, or iron deficiency in adults. (lls.org)
  • MG secondary to the paraneoplastic effect of CML was diagnosed, and treatment for the underlying disease (CML) and methylprednisolone were administered. (hippokratia.gr)
  • SECONDARY OBJECTIVES: I. Determine the effects of two conditioning regimens on changes in gene expression profiles, and evaluate the association of gene expression profiles and disease relapse. (druglib.com)
  • Multicenter study of decitabine administered daily for 5 days every 4 weeks to adults with myelodysplastic syndromes: the alternative dosing for outpatient treatment (ADOPT) trial. (cancer.org)
  • The disease is more common in adults, especially elderly people, and the course varies, ranging from an acute, rapidly fatal illness to a chronic, indolent disease. (medscape.com)
  • There are several significant morphological, cytogenetic and prognostic differencies of the disease in adults and in children. (sagepub.com)
  • This study correlated cytogenetic abnormalities with disease stage and JAK2 status. (nih.gov)
  • Childhood MDS is categorized based on the 2008 WHO Classification of Childhood Myelodysplastic Syndromes, as described below. (medscape.com)
  • Dr. B Chandrasekhar, Clinical Hematologist, Hemato-Oncologist and Bone marrow Transplant Physician explaining in detail about blood-related diseases and the Bone marrow Transplantation treatments. (visakhapatnamdoctors.com)