Cases reported "Dysgerminoma"

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1/352. Ovarian dysgerminoma, investigations on cell-and humoral-mediated immunologic reactions.

    A 17-year-old girl with repeated ovarian dysgerminoma is described. Postoperative immunologic investigations prior to irradiation showed a transient increased cell--an humoral--mediated immunologic responsiveness of the patient for approximately 2 1/2 months. After irradiation, a markedly defective response to PHA was observed which improved when reexamined 11 months later. The patient is well 22 months after the second operation.
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keywords = germ
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2/352. 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 = 1.2
keywords = germ
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3/352. SRY mutation and tumor formation on the gonads of XP pure gonadal dysgenesis patients.

    We report three patients with XY pure gonadal dysgenesis. Two of these patients developed gonadoblastoma and associated dysgerminoma. Molecular analyses were undertaken to investigate the relationship between the formation of these tumors and Y chromosome aberrations. Deletion analyses were performed by polymerase chain reaction (PCR) amplification of y chromosome-specific dna sequences (PABY, SRY, DYS250, DYS254, and DYZ1). A cryptic deletion of the short arm of the y chromosome that included the PABY, SRY, DYS250, and DYS254 loci was observed in one of the patients (22-years-old) with an associated tumor. In the other two patients who did not demonstrate such a deletion, the sequence of the SRY open reading frame was determined by the dideoxynucleotide method. Two nucleotide substitutions followed by a seven nucleotide deletion were observed in the 3' end of HMG (high mobility group)-box in the other patient (15-years-old) with an associated tumor. The patient (22-years-old) without an associated tumor did not have the cryptic deletion or mutation of SRY. A y chromosome specific sequence (DYZ1) was demonstrated by PCR amplification of microdissected tumor tissues from these two patients. These results suggest that SRY may play a role in the formation of gonadal tumors, especially dysgerminoma.
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4/352. 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 = 1.6
keywords = germ
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5/352. Sequential CT observations of irradiated intracranial germinomas.

    Computed tomography (CT) has improved the accuracy of preoperative diagnosis of intracranial tumors. CT findings of germinoma are a mass of isodensity or of slightly increased density with significant, homogeneous enhancement after intravenous contrast injection. These findings are characteristic but not pathognomonic, and differential diagnosis from other solid tumors is not easy. cerebrospinal fluid cytology and response to irradiation aid in this differential diagnosis. The nine cases of germinoma reported showed rapid response to irradiation even at small doses (600 rad), and complete disappearance of the mass on CT at 1,600--3,300 rad. Other radiosensitive masses to be differentiated in the pineal region are pinealocytoma or pinealoblastoma.
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ranking = 1.2
keywords = germ
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6/352. Ovarian dysgerminoma with massive metastases to para-aortic lymph nodes.

    We report on a 15-year-old female with left ovarian dysgerminoma accompanied by massive swelling of the para-aortic lymph nodes which was clearly demonstrated by preoperative magnetic resonance imaging (MRI). Metastasis to the para-aortic lymph nodes from dysgerminoma was confirmed by biopsies obtained during surgery. No study has previously reported dysgerminoma with massive para-aortic lymph node metastases clearly demonstrated by MRI. These preoperative MRI findings are presented here. The patient received six cycles of cisplatin-based combination chemotherapy with the BEP regimen (bleomycin, etoposide and cisplatin) after conservative surgery, and no residual para-aortic lymph nodes were detected by MRI or CT after the chemotherapy.
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ranking = 1.4
keywords = germ
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7/352. cyclophosphamide and water retention: mechanism revisited.

    We describe an 8 year-old girl with established diabetes insipidus who developed cyclophosphamide-associated antidiuresis. The patient had received cyclophosphamide as part of a high-dose chemotherapy regimen for recurrent suprasellar dysgerminoma prior to autologous bone marrow transplantation. Urinary output decreased and specific gravity increased shortly after a 1 hour i.v. infusion of 50 mg/kg cyclophosphamide and the effect lasted some 5 hours. No other drug could be implicated. This response, occurring in a patient with no ability to secrete vasopressin, suggests a direct tubular effect of one or more cyclophosphamide metabolites. Administering i.v. cyclophosphamide requires careful monitoring of fluid balance in order to avoid water intoxication. Further research is warranted both into the mechanism of this effect and the metabolite responsible for it.
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ranking = 0.2
keywords = germ
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8/352. pregnancy in a woman with a y chromosome after removal of an ovarian dysgerminoma.

    BACKGROUND: It appears to be a general belief that pregnancy might be impossible in women with the XY karyotype. Therefore, it is recommended that patients with dysgerminoma of the ovary associated with the XY karyotype should undergo a bilateral salpingo-oophorectomy. CASE: We report an extremely rare case of a true hermaphrodite with a 20% 46,XX/80% 46,XY karyotype who became pregnant after removal of an ovarian dysgerminoma. The patient had a completely normal female phenotype. A dysgerminoma with ovotestis was found in the right ovary. Two courses of chemotherapy following a right salpingo-oophorectomy were carried out. Nine months later she became pregnant and delivered a healthy male infant. CONCLUSION: A unilateral salpingo-oophorectomy followed by combination chemotherapy can be the treatment of choice for any woman who wishes to preserve her capacity for conception at the time of operation for dysgerminoma of the ovary.
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ranking = 1.6
keywords = germ
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9/352. 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 = 2.8
keywords = germ
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10/352. Late recurrence in ovarian dysgerminoma with successful response to standard adjuvant chemotherapy: a case report and review of the literature.

    BACKGROUND: Ovarian dysgerminomas are quite amenable to treatment and very good cure rates are achieved even with advanced disease. However, recent literature suggests that late recurrence may be associated with a poorer prognosis and bleomycin/etoposide/cisplatin (BEP) chemotherapy may play only a limited role in its management. We present a patient who had a late recurrence of ovarian dysgerminoma with successful treatment outcome. CASE: A 25-year-old woman was diagnosed with a stage IC ovarian dysgerminoma in 1983 and did not undergo adjuvant treatment. She had late recurrence 12 years later with good treatment response to BEP chemotherapy given in a semiadjuvant fashion. CONCLUSION: Our case demonstrates that BEP chemotherapy still plays an important role in treatment of late recurrence in ovarian dysgerminomas provided there is small volume disease at time of detection. Also important is long-term surveillance in an effort to detect recurrence while still small in volume and potentially curable.
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ranking = 1.6
keywords = germ
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