Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004135 (ATM)
 13,001 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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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PMID:Ataxia-telangiectasia with ovarian gonadoblastoma and contralateral dysgerminoma. 119 68