Cases reported "Ataxia Telangiectasia"

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1/3. 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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keywords = dysgerminoma
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2/3. ataxia-telangiectasia with dysgerminoma of right ovary, papillary carcinoma of thyroid, and adenocarcinoma of pancreas.

    The first case of ataxia-telangiectasia (AT) with dysgerminoma of the right ovary, papillary carcinoma of the thyroid, and adenocarcinoma of the pancreas is reported. There is the characteristic trend of the occurrence of the malignant neoplasms in AT. Lymphoreticular neoplasms and leukemia are most frequently seen in the younger patients with AT. On the other hand, epithelial malignant neoplasms are frequently seen in the longer survivors with AT. literature also shows that nucleomegaly is due to precocious or abnormal aging.
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keywords = dysgerminoma
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3/3. An unusual case of urinary incontinence, ataxia-telangiectasia, and metastatic dysgerminoma: case report and review of the literature.

    ataxia-telangiectasia (A-T) is a rare autosomal recessive disease notable for neurodegeneration, chromosomal instability, and a predisposition to cancer. It presents in childhood with a variable phenotype. We report the first case of an A-T related tumor presenting as urinary incontinence, and the first case of 2-year survival in an A-T patient with metastatic dysgerminoma.
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ranking = 0.83333333333333
keywords = dysgerminoma
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