Cases reported "Dysgerminoma"

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1/143. A frame shift mutation in the dna-binding domain of the androgen receptor gene associated with complete androgen insensitivity, persistent mullerian structures, and germ cell tumors in dysgenetic gonads.

    OBJECTIVE: To describe the molecular, cytogenetic, immunohistochemical, and endocrinologic characteristics of a young 46,XY female with persistent mullerian structures and germ cell tumors in dysgenetic gonads. DESIGN: Descriptive case study. SETTING: Mackay Memorial Hospital and National Yang-Ming University, Taipei, taiwan. PATIENT(S): A 22-year-old 46,XY female with persistent mullerian structures, a low level of serum testosterone, and no apparent adnexal masses. INTERVENTION(S): Laparoscopic removal of the dysgenetic gonads. MAIN OUTCOME MEASURE(S): Detection of an androgen receptor gene mutation by a semiautomated dna sequencer, of the chromosomal complement by cytogenetic examination, of placental alkaline phosphatase activity by immunohistochemical analysis, and of neoplasms in dysgenetic gonads by histologic studies. RESULT(S): A unilateral gonadoblastoma and a contralateral gonadoblastoma associated with a dysgerminoma were found in the excised gonads. The tumors had a 46,XY complement. Placental alkaline phosphatase was present in the tumor cells. A frameshift mutation in the dna-binding domain of the androgen receptor gene was detected in the patient's blood and the tumor tissues. A five-nucleotide "AGGAA" deletion at codons 608 and 609 of the androgen receptor gene resulted in a missing arginine and lysine as well as a frameshift that introduced a stop codon 12 amino acid downstream from the mutation. CONCLUSION(S): Molecular genetic analysis of the androgen receptor gene aids in the rapid diagnosis of complete androgen insensitivity irrespective of atypical clinical phenotypes and endocrinologic parameters.
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ranking = 1
keywords = neoplasm
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2/143. trisomy 21 associated with ovarian dysgerminoma.

    A 13-year-old G(0)P(0) white female with trisomy 21 presented with a complex pelvic mass. She underwent resection of the mass and complete staging for what was found to be a stage IIIC completely resected dysgerminoma. She was treated with three cycles of bleomycin, etoposide, and cisplatin chemotherapy and remains free of disease 1 year later. This association is presented as a rare case that may illustrate the relative increase in germ cell neoplasms in female patients with Down's syndrome. While the association of seminoma with Down's syndrome has been documented in a number of cases in males, the female counterpart of this tumor, dysgerminoma, in trisomy 21 has been reported quite infrequently. The potential for germ cell tumors in both male and female trisomy 21 is therefore illustrated.
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ranking = 1
keywords = neoplasm
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3/143. Primary ovarian dysgerminoma in a patient with a germline BRCA1 mutation.

    Germline mutations in the BRCA1 tumor suppressor gene are associated with increased risk for the development of ovarian cancer. All such cancers thus far reported have been of the epithelial histologic type. We identified an ovarian dysgerminoma in a 16-year-old woman (proband) with a family history of ovarian cancer during a review of histopathologic characteristics of ovarian cancers from women enrolled in the Gilda Radner Familial Ovarian Cancer Registry. Mutation analysis of dna from this patient's peripheral blood leukocytes revealed a germline BRCA1 mutation (3312insG). The mutation was also present in the mother with breast cancer, a maternal aunt and a distant cousin with ovarian cancer, and a maternal grandfather and an uncle with skin cancer. The development of the proband's dysgerminoma may be unrelated to her germline BRCA1 mutation. Alternatively, such dysgerminomas may be caused by BRCA1 mutations, but occur so infrequently compared with epithelial cancers that they are seldom identified. Analysis of a larger series of ovarian germ cell tumors may resolve this question.
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ranking = 3.5253712004885
keywords = cancer
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4/143. Primary retroperitoneal seminoma. Report of a case and review of the literature.

    A large retroperitoneal seminoma in a 42-year-old man is described, which appears to have arisen as a primary tumor at that site. The mechanism for the development of extragonadal germ cell tumors is discussed, and the criteria for their distinction from metastatic occult or regressed testicular neoplasms are re-emphasized. awareness by clinicians of this entity may save individuals with this neoplasm from unnecessary orchiectomy.
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ranking = 2
keywords = neoplasm
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5/143. ataxia-telangiectasia with ovarian gonadoblastoma and contralateral dysgerminoma.

    Although neoplasms are unusually frequent in patients with ataxia-telangiectasia, the occurrence of primary tumors of the ovary in such patients is exceedingly rare. This report describes a 17-year-old phenotypic female with ataxia-telangiectasia, who was found to harbor an ovarian gonadoblastoma and a contralateral dysgerminoma. The latter tumor has occurred in only one other patient with ataxia-telangiectasia, while an association with gonadoblastoma has never been documented previously. Additional unusual features rarely encountered in patients with gonadoblastoma included origin of the tumor within a histologically proven ovary, and a 46,XX karyotype. The possibility that the dysgerminoma also arose from a gonadoblastoma is discussed.
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ranking = 1
keywords = neoplasm
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6/143. Synergism between radiotherapy and vascular risk factors in the accelerated development of atherosclerosis: a report of three cases.

    radiotherapy is commonly used in the management of testicular tumors. However, to date the risk of radiation-induced vascular occlusive disease in men following radiotherapy for testicular cancer has not been regarded as a major factor in their long-term care. Several animal studies have shown the importance of established vascular risk factors such as hypercholesterolemia and hypertension in the pathogenesis of radiation-induced atherosclerosis. This report presents three cases of premature chronic iliofemoral arterial disease presenting 5,13, and 16 years following exposure to therapeutic irradiation for the treatment of testicular cancer. The patients were in the age group of 40-45 years and all demonstrated associated known atherosclerotic risk factors. The patients had received radiotherapy in the dose of 3,500-4,000 rads in a standard "dog-leg" fashion to the ipsilateral aortoiliac lymphatic chain. Our results showed that young men treated with radiotherapy for testicular cancer may be targeted from the outset for atherosclerotic risk factor reduction to minimize the risk of development of late chronic occlusive arterial disease. It may be that a cohort of men so treated with historical regimes of radiotherapy and now entering middle age should be screened for arterial disease and risk factor reduction.
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ranking = 25.414738146097
keywords = radiation-induced, cancer
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7/143. Nonseminomatous germ cell tumor arising in splenogonadal fusion.

    Splenogonadal fusion is a rare congenital malformation in which the spleen is abnormally connected to the gonads or to the mesonephric derivatives. A few more than 150 cases have been described in the world literature. We report an additional case of splenogonadal fusion. A nonseminomatous germ cell tumor was found in the testicle involved in this splenogonadal fusion. To our knowledge, this is the third reported case of a testicular neoplasm associated with splenogonadal fusion and the first reported case of intra-abdominal nonseminomatous germ cell testicular tumor arising in this rare anomaly. The literature pertaining to splenogonadal fusion and the testicular tumor arising in this anomaly is briefly reviewed.
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ranking = 1
keywords = neoplasm
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8/143. Testicular neoplasm in siblings.

    Two sets of testicular tumors involving nontwin siblings are reported. The possibility dysgenesis and dysgonesis and the totipotentiality of the cells in the pathogenesis of these tumors are described and discussed
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ranking = 4
keywords = neoplasm
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9/143. Germ cell neoplasms in three intersex patients with 46,XY karyotype.

    This report presents 3 cases with gonadoblastoma mixed with other germ cell tumours in intersex patients, all with a 46,XY karyotype. One 11-year-old patient was a true hermaphrodite, the others, aged 13 and 18, respectively, had both gonadal dysgenesis. Different clinical courses have been noted. Two patients had gonadoblastoma combined with dysgerminoma; in one of them a teratoma was also found. In the third case gonadoblastoma was transformed into teratocarcinoma. The malignant degeneration was more serious in the 2 pubertal patients. Thus, we recommend early and prophylactic gonadectomy.
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ranking = 4
keywords = neoplasm
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10/143. The association of germ cell tumours of the testis with sarcoid-like processes.

    Sarcoid-type pulmonary lymphadenopathy associated with testicular cancer is a rare condition which has been previously reported in only 14 cases. Earlier case reports have failed to distinguish between generalized sarcoidosis as opposed to a local granulomatous reaction to tumour. We describe a further 8 cases of the association and provide strong supportive evidence for systemic sarcoidosis in 5 of our patients. In 3 of our patients with systemic sarcoidosis there was coexisting testicular cancer requiring additional treatment. We therefore advise caution in the interpretation of the clinical and histological findings in these patients, and recommend thorough investigation of all such cases.
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ranking = 0.88134280012213
keywords = cancer
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