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.
D000293:Adolescent; D001260:Ataxia Telangiectasia / Q000150:complications* / Q000235:genetics; D004407:Dysgerminoma / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D009378:Neoplasms, Multiple Primary / Q000150:complications* / Q000473:pathology; D010051:Ovarian Neoplasms / Q000150:complications* / Q000473:pathology; D012730:Sex Chromosomes