Cases reported "Gonadoblastoma"

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1/16. 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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2/16. Ovarian gonadoblastoma with mixed germ cell tumor in a woman with 46, XX karyotype and successful pregnancies.

    An extremely rare case of unilateral gonadoblastoma with mixed germ cell tumor arising in the ovary of a 27-year-old woman with 46,XX karyotype and two successful pregnancies is reported. The mixed germ cell tumor was composed of choriocarcinoma, embryonal carcinoma, yolk sac tumor, immature teratoma and dysgerminoma. The patient has been well, without evidence of disease for over 10 years since her first surgery and adjuvant chemotherapy.
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3/16. microsatellite instability in gonadal tumors of XY pure gonadal dysgenesis patients.

    To investigate genetic alternation accompanied by malignant transformation in gonadal tumors of XY pure gonadal dysgenesis patients, we investigated microsatellite instability in the hMSH1, hMSH2, TP53, and DCC loci, and ras mutations in two patients. The gonadal tumors from the patients were combined gonadoblastoma and dysgerminoma. microsatellite instability and/or loss of heterozygotes (LOH) at hMSH1, hMSH2, and TP53 were detected in the dysgerminoma lesions of the both patients, but were not observed in any normal tissues. In the analyses of the H-, K-, or N-ras genes, where specific mutations have been frequently reported, no mutations were observed in the tumors. It is suggested therefore that microsatellite instability plays an important role in malignant transformation of gonadal tumors in patients with XY pure gonadal dysgenesis.
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4/16. gonadoblastoma and dysgerminoma associated with XY gonadal dysgenesis in an adolescent with chronic renal failure: a case of frasier syndrome.

    STUDY OBJECTIVES: To report a rare reason for primary amenorrhea, a frasier syndrome, XY gonadal dysgenesis associated with renal failure with eventual development of gonadoblastoma. To study immunohistochemical analysis of gonadoblastoma and dysgerminoma. To analyze the possibility of androgen receptor mutation in this rare syndrome. methods: We report a case of a 16-yr-old female with this syndrome. She underwent a laparoscopic bilateral gonadectomy and salpingectomy. A histopathological examination revealed gonadoblastoma with focal malignant dysgerminoma in the left dysgenetic gonad and an immunohistochemical of these fairly rare, malignant tumors. An androgen receptor was coded. Analysis was done. RESULTS: Immunohistochemical analysis showed that inhibin was strongly positive in gonadoblastoma but negative in dysgerminoma. No mutations of the androgen receptor gene were found. CONCLUSIONS: Inhibin positivity in gonadal stroma and in gonadoblastoma may indicate hormonal activity causing advanced puberty in patients with XY gonadal dysgenesis.
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5/16. gonadoblastoma in androgen insensitivity syndrome: a case report.

    We report a case of androgen insensitivity syndrome (AIS) characterized by malignant degeneration of the testes consisting of gonadoblastoma and dysgerminoma. AIS is a rare inherited form of male pseudohermaphroditism that can manifest as a normal female phenotype without mullerian derivatives and absence of the upper third of the vagina. A 32-year-old white 46,XY female with AIS underwent removal of the dysgenetic gonads at the Gynecological Oncology Department of the Istituto Nazionale Tumori, Milan, italy. We investigated cytogenetic alterations, hormonal levels and the presence of neoplasia in the dysgenetic gonads. Histological analysis revealed a gonadoblastoma mixed with dysgerminoma in the left gonad and a pure dysgerminoma in the right gonad. The patient's hormonal status matched that of a male. Second-look laparotomy after chemotherapy showed a complete pathological response. AIS should be suspected in phenotypically female patients with primary amenorrhea; surgical removal of the gonads is mandatory to avoid malignant degeneration.
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6/16. genome profiles of bilateral dysgerminomas, a unilateral gonadoblastoma, and a metastasis from a 46, XY phenotypic female.

    We present a case report of a 16-year-old, phenotypic female with bilateral dysgerminomas, a unilateral gonadoblastoma, and a peritoneal metastasis. The patient's constitutional karyotype was 46,XY. The chromosomal copy number, examined by the comparative genomic hybridization technique, showed 3 gains in the dysgerminoma of the right ovary, 6 gains in the dysgerminoma of the left ovary, and 2 gains and 1 loss in the gonadoblastoma of the left ovary. The metastasis showed 5 gains of which 4 were also observed in the dysgerminoma of the left ovary. The dna ploidy classifications of the gonadoblastoma and the dysgerminoma in the right ovary were tetraploid, whereas the dysgerminoma in the left ovary and the metastasis were aneuploid. We therefore propose that the metastasis most probably developed from the dysgerminoma of the left ovary.
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7/16. Distribution of Y-chromosome-bearing cells in gonadoblastoma and dysgenetic testis in 45,X/46,XY infants.

    gonadoblastoma is an unusual mixed germ cell-sex cord-stromal tumor that has the potential for malignant transformation and 30% of all patients with gonadoblastoma develop germ cell tumors mainly dysgerminoma/seminoma. An additional 10% gives rise to other malignant germ cell neoplasms. This tumor affects a subset of patients with intersex disorders. The age at diagnosis is variable ranging from birth to the fourth decade, but around 94% of cases are diagnosed during the first three decades of life and there are few cases with gonadoblastoma diagnosed in infants. In this paper, we present the histological and molecular findings of four patients with gonadal dysgenesis who developed gonadoblastoma in the first 2 years of life and one case with bilateral dysgerminoma diagnosed at 15 years of age. The sex chromosomes of mosaic patients do not distribute homogenously in dysgenetic gonads; however, statistical analysis of FISH results revealed significant differences between the XY cell line in the gonadoblastoma compared with the dysgenetic testis. Our cases demonstrate that tumors could be present at a very early age, so the prophylactic removal of the gonads is advised.
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keywords = dysgerminoma
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8/16. gonadoblastoma with contralateral dysgerminoma in a young female--a case report.

    Gonadoblastomas are rare germ cell and sex cord stromal tumours, often associated with dysgerminomas. They occur almost entirely in patients with pure or mixed gonadal dysgenesis and in male pseudohermaphroditism. A 19 year old female was admitted in our hospital for evaluation of primary amenorrhoea. She had poor secondary sexual characters, left sided streak gonad and right sided ovarian tumour. Histopathology showed gonadoblastoma in streak gonad with contralateral dysgerminoma. This case is presented because of its rarity and clinical importance of recognizing such cases because of excellent prognosis.
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9/16. Prophylactic bilateral salpingo-oopherectomy in a 17-year-old with frasier syndrome reveals gonadoblastoma and seminoma: a case report.

    Mutations in the Wilms' tumor gene are present in children with frasier syndrome, denys-drash syndrome, wagr syndrome, and some cases of Wilms' tumor. The Wilms' tumor gene product, WT1, is necessary for normal urogenital development. Frasier syndrome is an association between focal segmental glomerulosclerosis, beginning in the second and third decade, male to female sex reversal, and dysgenetic gonads. We report a case of frasier syndrome in a 17-year-old adolescent girl with renal failure, kidney transplant, and dysgenetic gonads, with development of gonadoblastoma and dysgerminoma (seminoma). The diagnosis of frasier syndrome was based on nephrotic syndrome with diffuse mesangial sclerosis leading to chronic renal failure, dysgenetic gonads, 46 XY karyotype in a phenotypic female, and a mutation in the Wilms' tumor gene. Prophylactic laparoscopic bilateral salpingo-oopherectomy revealed gonadoblastoma and seminoma in opposite atrophic ovaries as well as a hypoplastic uterus. Early prophylactic resection of dysgenetic gonads is indicated in children with frasier syndrome to prevent the development of germ cell malignancy.
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10/16. gonadoblastoma with coexistent features of mixed germ cell-sex cord stroma tumor: a case report.

    gonadoblastoma and mixed germ cell-sex cord stroma tumor have been widely recognized as two separate entities on the basis of both clinical and pathological features. The typical morphological pattern of both tumor types was found by us to coexist in the same gonadal tumor in a 14-year-old 46,XY phenotypically female subject who also had a contralateral dysgerminoma. A subserous implant showing the mixed germ cell-sex cord pattern of the primary tumor was detected in the uterine body. Following therapy the patient is alive and well after a 7-year follow-up. The distinction between gonadoblastoma and mixed germ cell-sex cord stroma tumor requires discussion.
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