A Case of Dysgerminoma in a Pediatric Patient With a PIK3CD Mutation

Abstract

Dysgerminoma is a rare germ cell tumor, typically presenting with abdominal pain and distension in young patients with ovaries. Primary surgical management is first-line treatment, with adjuvant chemotherapy for late-stage cases. The presence of an SRY gene and dysgenic gonad is a risk factor for abnormal dysgerminoma presentation. Associations have been reported between dysgerminoma and other genetic mutations, though no definitive correlation has been shown. This article reviews a case of abnormal presentation of dysgerminoma in a pediatric patient with unique genetic abnormalities, and discusses epidemiology, diagnosis, and treatment of dysgerminoma, and associated genetic mutations related to this case.