Dysgerminoma
Gonadoblastoma
Gonadal Dysgenesis, 46,XY
Ovarian Neoplasms
Endodermal Sinus Tumor
Pregnancy Complications, Neoplastic
Neoplasms, Germ Cell and Embryonal
Androgen receptor gene mutations in 46,XY females with germ cell tumours. (1/204)
We present clinical findings and molecular characterization in two patients previously diagnosed as 46,XY female gonadal dysgenesis with germ cell tumour. Both patients showed a female general phenotype with unambiguously female external genitalia and primary amenorrhoea compatible with complete androgen insensitivity syndrome. The first patient, at the age of 31 years, developed a dysgerminoma measuring 8 x 13 x 10 cm in one abdominal testis. Genetic analysis revealed a single nucleotide substitution on exon 4 in the hormone-binding domain of the androgen receptor (AR) gene, resulting in a change of codon 681 GAG (glutamic acid) to AAG (lysine). The second patient, at the age of 17 years, developed a dysgerminoma measuring 12 x 10 x 7 cm in one abdominal testis and gonadoblastoma in the other testis. Genetic analysis showed a point mutation on exon 3 in the DNA-binding domain of the AR gene resulting in a change of codon 607 CGA (arginine) to CAA (glutamine). Arg607-Gln and Arg608-Lys point mutations in the DNA-binding domain of the AR gene have been associated with male breast cancer in partial androgen insensitivity syndrome. A codon 607 mutation in the DNA-binding domain of the AR gene in our patient 2 is associated with early development of germ cell tumour. We suggest regular molecular genetic analysis of the AR gene in 46,XY females with germ cell tumour and androgen insensitivity syndrome to detect differences in the specific regions of AR gene involved in early progression toward oncogenesis of the dysgenetic gonads. (+info)Outcome and reproductive function after chemotherapy for ovarian dysgerminoma. (2/204)
PURPOSE: To review the outcome for all patients with ovarian dysgerminoma treated at the M.D. Anderson Cancer Center who received bleomycin, etoposide, and cisplatin (BEP) and to assess the menstrual and reproductive function of those who received conservative treatment. PATIENTS AND METHODS: Clinical information was abstracted from the medical record. Patients completed a detailed questionnaire about menstrual and reproductive function; those who did not return the questionnaire were interviewed by telephone. RESULTS: Twenty-six patients were identified as having been treated with BEP chemotherapy for pure ovarian dysgerminoma from January 1984 to January 1998. Their median age was 19.5 years (range, 7 to 32 years). Sixteen patients underwent fertility-sparing surgery in the form of unilateral salpingo-oophorectomy. At a median follow-up time of 89 months, 25 (96%) of the 26 patients remained continuously disease-free. One patient apparently developed a second primary dysgerminoma in her remaining ovary after BEP and was clinically disease-free after further treatment. Of the 16 patients who underwent fertility-sparing surgery, one was lost to follow-up when she was pregnant, and one was still premenarchal. Of the remaining 14 patients, 10 (71%) maintained their normal menstrual function during and after chemotherapy, and 13 (93%) had returned to their prechemotherapy menstrual pattern at the time of the questionnaire. Five pregnancies have occurred thus far, and two patients have had difficulty conceiving. CONCLUSION: Most patients with metastatic dysgerminoma can expect cure with maintenance of normal reproductive function when treated with conservative surgery and BEP chemotherapy. (+info)The fine structure of thymoma, with emphasis on its differential diagnosis. A study of ten cases. (3/204)
In this study, thymoma is defined as a neoplasm of the epithelial-reticular framework cells of the thymus. As in the normal thymus, these cells regularly displayed branching tonofilaments, macuale adherens, elongated processes, and basal lamina. These characteristics proved useful in the differential diagnosis of thymoma from a variety of anterior mediastinal tumors including thymic carcinoid, lymphoma, germinoma (seminoma type), and fibrous mesothelioma. Lymphocytes in the thymomas often showed mitotic activity and a moderate degree of transformation. The significance of this and the gland-like spaces, vacuolated epithelial cells, starry-sky appearance, emperipolesis, and perivascular spaces is discussed. (+info)DNA copy number changes in malignant ovarian germ cell tumors. (4/204)
Malignant ovarian germ cell tumors (OGCTs) include immature teratomas (ITs), dysgerminomas (DGs), endodermal sinus tumors (ESTs), choriocarcinomas, and embryonal carcinomas. Knowledge about the genetic changes associated with malignant OGCT development is sparse. We therefore analyzed 25 OGCTs (12 DGs, 4 ESTs, and 9 ITs) for gains and losses by comparative genomic hybridization. In total, more gains than losses were observed, and the number of alterations ranged from 0-20 per tumor. The average number of changes among DGs, ESTs, and ITs was 10, 6, and 1.4, respectively. The most common changes in DGs were gains from chromosome arms 1p (33%), 6p (33%), 12p (67%), 12q (75%), 15q (42%), 20q (50%), 21q (67%), and 22q (58%); gains of the whole of chromosomes 7 (42%), 8 (42%), 17 (42%), and 19 (50%); and losses from 13q (58%). Two of three DGs with a gonadoblastoma component showed gains of 3p21 and loss of 5p, whereas none of the nine pure DGs had these changes, suggesting that they might be characteristic either of gonadoblastoma or of DG developing from a gonadoblastoma. Gain of 12p and gain from 1q were seen in three of four ESTs, whereas gains from 3p, 11q, and Xp and loss from 18q were each found in two tumors. Five of the ITs revealed changes (range, 1-4 changes/tumor), with gains from 1p, 16p, 19, and 22q each being found in two tumors. We conclude that ovarian DGs and ESTs seem to develop via the same genetic pathways that are already known for testicular germ cell tumors. On the other hand, ITs do not exhibit gain of 12p and also typically show fewer changes than other malignant OGCTs, indicating that they arise via different pathogenetic mechanisms. (+info)A comparison of 111In with 52Fe and 99mTc-sulfur colloid for bone marrow scanning. (5/204)
Under most circumstances 52Fe, 111In, and colloid show a similar distribution of marrow. The lesser uptake of 111In by liver and spleen may occasionally be of value in permitting visualization of that portion of the spinal marrow obscured by these organs in the colloid scan. However, in red cell aplasia, when there is dissociation between phagocytic and erythropoietic functions, scanning with 111In gives no information about erythropoietic tissue distribution. Therefore, indium cannot be used as an analog for iron in the study of the hematopoietic system. (+info)Immunoreactivity of A103, an antibody to Melan A, in canine steroid-producing tissues and their tumors. (6/204)
The monoclonal antibody A103 to the melanocytic differentiation antigen Melan A stains human steroid-producing cells and their tumors. A total of 200 formalin-fixed, paraffin-embedded canine normal tissues and hyperplastic and neoplastic lesions of the adrenal gland, testis, and ovary were immunohistochemically tested for Melan A with antibody A103. Leydig cell tumors (23/23, 100%), Sertoli cell tumors (14/15, 93%), and adrenocortical adenomas (12/13, 92%) were consistently positive. Adrenocortical carcinomas (23/35, 65%) and granulosa cell tumors (10/17, 59%) were less frequently positive. All pheochromocytomas, seminomas, and dysgerminomas were negative. The pattern of staining was cytoplasmic, but nuclear staining was also frequently seen in normal Leydig cells and their tumors. As in human tumors, immunohistochemistry for Melan A stains many canine steroid-producing tumors and can be used to distinguish these tumors from those of nonstereidogenic cells. (+info)Gonadal malignant germ cell tumors express immunoreactive inhibin/activin subunits. (7/204)
OBJECTIVE: Inhibin and activin are proteins produced by ovarian granulosa cells and testicular Sertoli cells and are members of the transforming growth factor-beta superfamily. Since increased circulating levels of immunoreactive inhibin were detected in women with malignant ovarian tumors, they were proposed as tumor markers for ovarian carcinoma. Immunohistochemical studies later confirmed the presence of inhibin and activin subunits in granulosa cell tumors and epithelial ovarian cancer, as well as in Sertoli and Leydig cell testicular cancer. However, there is discrepant information on the detection of inhibin and activin in malignant germ cell tumors (MGCT). The aim of the present study was to evaluate the immunohistochemical expression of the inhibin/activin alpha, betaA and betaB subunits in ovarian and testicular MGCT specimens using polyclonal antisera. METHODS: The ovarian tissue samples were composed of 19 MGCT, including dysgerminoma (n=18) and yolk sac tumor (n=1). The testis specimens included classic seminomas (n=20), embryonal carcinomas (n=7), choriocarcinomas (n=2), and yolk sac tumor (n=1). RESULTS: Ovarian and testicular malignant germ cell tumors expressed positive staining for inhibin/activin alpha, betaA and betaB subunits, with some variations between and within individual tumors: while ovarian dysgerminomas were diffusely positive for alpha, betaA and betaB, testicular tumors expressed alpha and betaB subunits, whereas betaA staining was weak. CONCLUSIONS: The present results show positive staining for inhibin/activin subunits in ovarian and testicular MGCT, suggesting a possible role in tumorigenesis with the resultant clinical implication. (+info)Value of gallium scanning in seminoma of the testis. (8/204)
Whole-body scanning using gallium-67-citrate gave consistently accurate tumour localisation in patients with seminoma of the testis. Thirteen out of 15 scans performed in patients with disseminated seminoma in relapse gave good imaging in all disease areas. Scans in patients with teratoma of the testis were less consistently positive; of nine scans performed in patients with disseminated teratoma seven were entirely negative and two scans lightly imaged large disease masses in two patients. In eight patients with combined (seminoma and teratoma) tumours the scan seemed to reflect the dominant tumour type at the time of scanning. In one of these patients the scans changed from positive to negative, being positive when seminoma was the dominant tumour and negative when a teratoma developed. Gallium-67-citrate scanning is useful in managing seminoma of the testis, both for determining the extent of disease present at initial presentation and for routine follow-up. It may be useful in the differential diagnosis of combined tumours when tumour masses are greater than 2 cm in diameter. (+info)Dysgerminoma is a type of germ cell tumor that develops in the ovaries. It is a malignant (cancerous) tumor that primarily affects girls and women of reproductive age, although it can occur at any age. Dysgerminomas are composed of large, round, or polygonal cells with clear cytoplasm and distinct cell borders, arranged in nests or sheets. They may also contain lymphoid aggregates and may produce hormones such as estrogen or testosterone.
Dysgerminomas are usually unilateral (affecting one ovary), but they can be bilateral (affecting both ovaries) in about 10-15% of cases. They tend to grow and spread rapidly, so early detection and treatment are crucial for a favorable prognosis.
The standard treatment for dysgerminoma is surgical removal of the affected ovary or ovaries, followed by chemotherapy with agents such as bleomycin, etoposide, and cisplatin (BEP). With appropriate treatment, the five-year survival rate for patients with dysgerminoma is high, ranging from 80% to 95%.
Gonadoblastoma is a rare, typically benign, slow-growing tumor that primarily affects the gonads (ovaries or testes). It most commonly occurs in individuals with disorders of sexual development, particularly those with gonadal dysgenesis and a 46,XY karyotype. The tumor is composed of germ cells and sex cord stromal cells, which differentiate into various cell types found within the gonads.
Gonadoblastomas are usually asymptomatic and are often discovered incidentally during imaging studies or surgical procedures for other conditions. In some cases, they may produce hormones leading to precocious puberty or virilization. Although typically benign, there is a risk of malignant transformation into germ cell tumors such as dysgerminoma, seminoma, or teratoma. Regular follow-up and monitoring are essential for early detection and management of potential complications. Treatment usually involves surgical removal of the affected gonad.
Gonadal dysgenesis, 46,XY is a medical condition where the gonads (testes) fail to develop or function properly in an individual with a 46,XY karyotype (a normal male chromosomal composition). This means that the person has one X and one Y chromosome, but their gonads do not develop into fully functional testes. As a result, the person may have ambiguous genitalia or female external genitalia, and they will typically not produce enough or any male hormones. The condition can also be associated with an increased risk of developing germ cell tumors in the dysgenetic gonads.
The severity of gonadal dysgenesis, 46,XY can vary widely, and it may be accompanied by other developmental abnormalities or syndromes. Treatment typically involves surgical removal of the dysgenetic gonads to reduce the risk of tumor development, as well as hormone replacement therapy to support normal sexual development and reproductive function. The underlying cause of gonadal dysgenesis, 46,XY is not always known, but it can be associated with genetic mutations or chromosomal abnormalities.
Ovarian neoplasms refer to abnormal growths or tumors in the ovary, which can be benign (non-cancerous) or malignant (cancerous). These growths can originate from various cell types within the ovary, including epithelial cells, germ cells, and stromal cells. Ovarian neoplasms are often classified based on their cell type of origin, histological features, and potential for invasive or metastatic behavior.
Epithelial ovarian neoplasms are the most common type and can be further categorized into several subtypes, such as serous, mucinous, endometrioid, clear cell, and Brenner tumors. Some of these epithelial tumors have a higher risk of becoming malignant and spreading to other parts of the body.
Germ cell ovarian neoplasms arise from the cells that give rise to eggs (oocytes) and can include teratomas, dysgerminomas, yolk sac tumors, and embryonal carcinomas. Stromal ovarian neoplasms develop from the connective tissue cells supporting the ovary and can include granulosa cell tumors, thecomas, and fibromas.
It is essential to diagnose and treat ovarian neoplasms promptly, as some malignant forms can be aggressive and potentially life-threatening if not managed appropriately. Regular gynecological exams, imaging studies, and tumor marker tests are often used for early detection and monitoring of ovarian neoplasms. Treatment options may include surgery, chemotherapy, or radiation therapy, depending on the type, stage, and patient's overall health condition.
An Endodermal Sinus Tumor (EST) is a type of germ cell tumor, which is a rare cancer that occurs most frequently in the ovaries or testicles but can also occur in other parts of the body. EST is also known as a yolk sac tumor because it resembles the yolk sac of an embryo.
ESTs are highly aggressive and fast-growing tumors that typically affect children and young adults, with a peak incidence in the first decade of life. These tumors can produce various proteins and substances, such as alpha-fetoprotein (AFP), which can be used as markers for diagnosis and monitoring treatment response.
The symptoms of EST depend on the location of the tumor but may include abdominal pain or swelling, constipation, nausea, vomiting, and irregular menstrual periods in females. Treatment typically involves surgical removal of the tumor, followed by chemotherapy to kill any remaining cancer cells. The prognosis for EST depends on several factors, including the stage of the disease at diagnosis, the patient's age, and the response to treatment.
Neoplastic pregnancy complications refer to the abnormal growth of cells (neoplasia) that can occur during pregnancy. These growths can be benign or malignant and can arise from any type of tissue in the body. However, when they occur in pregnant women, they can pose unique challenges due to the potential effects on the developing fetus and the changes in the mother's body.
Some common neoplastic pregnancy complications include:
1. Gestational trophoblastic disease (GTD): This is a group of rare tumors that occur in the uterus during pregnancy. GTD can range from benign conditions like hydatidiform mole to malignant forms like choriocarcinoma.
2. Breast cancer: Pregnancy-associated breast cancer (PABC) is a type of breast cancer that occurs during pregnancy or within one year after delivery. It can be aggressive and challenging to diagnose due to the changes in the breast tissue during pregnancy.
3. Cervical cancer: Cervical cancer can occur during pregnancy, and its management depends on the stage of the disease and the gestational age. In some cases, treatment may need to be delayed until after delivery.
4. Lung cancer: Pregnancy does not increase the risk of lung cancer, but it can make diagnosis and treatment more challenging.
5. Melanoma: Melanoma is the most common malignant skin cancer during pregnancy. It can spread quickly and requires prompt treatment.
The management of neoplastic pregnancy complications depends on several factors, including the type and stage of the tumor, gestational age, and the patient's wishes. In some cases, surgery, chemotherapy, or radiation therapy may be necessary. However, these treatments can have potential risks to the developing fetus, so a multidisciplinary team of healthcare providers is often involved in the care of pregnant women with neoplastic complications.
Neoplasms, germ cell and embryonal are types of tumors that originate from the abnormal growth of cells. Here's a brief medical definition for each:
1. Neoplasms: Neoplasms refer to abnormal tissue growths or masses, which can be benign (non-cancerous) or malignant (cancerous). They result from uncontrolled cell division and may invade surrounding tissues or spread to other parts of the body through a process called metastasis.
2. Germ Cell Tumors: These are rare tumors that develop from the germ cells, which give rise to sperm and eggs in the reproductive organs (ovaries and testes). They can be benign or malignant and may occur in both children and adults. Germ cell tumors can also arise outside of the reproductive organs, a condition known as extragonadal germ cell tumors.
3. Embryonal Tumors: These are a type of malignant neoplasm that primarily affects infants and young children. They develop from embryonic cells, which are immature cells present during fetal development. Embryonal tumors can occur in various organs, including the brain (medulloblastomas), nervous system (primitive neuroectodermal tumors or PNETs), and other areas like the kidneys and liver.
It is essential to note that these conditions require professional medical evaluation and treatment by healthcare professionals with expertise in oncology and related fields.
Testicular neoplasms are abnormal growths or tumors in the testicle that can be benign (non-cancerous) or malignant (cancerous). They are a type of genitourinary cancer, which affects the reproductive and urinary systems. Testicular neoplasms can occur in men of any age but are most commonly found in young adults between the ages of 15 and 40.
Testicular neoplasms can be classified into two main categories: germ cell tumors and non-germ cell tumors. Germ cell tumors, which arise from the cells that give rise to sperm, are further divided into seminomas and non-seminomas. Seminomas are typically slow-growing and have a good prognosis, while non-seminomas tend to grow more quickly and can spread to other parts of the body.
Non-germ cell tumors are less common than germ cell tumors and include Leydig cell tumors, Sertoli cell tumors, and lymphomas. These tumors can have a variety of clinical behaviors, ranging from benign to malignant.
Testicular neoplasms often present as a painless mass or swelling in the testicle. Other symptoms may include a feeling of heaviness or discomfort in the scrotum, a dull ache in the lower abdomen or groin, and breast enlargement (gynecomastia).
Diagnosis typically involves a physical examination, imaging studies such as ultrasound or CT scan, and blood tests to detect tumor markers. Treatment options depend on the type and stage of the neoplasm but may include surgery, radiation therapy, chemotherapy, or a combination of these modalities. Regular self-examinations of the testicles are recommended for early detection and improved outcomes.