Prophylactic BSO in an Adolescent Patient With a SMARCA4 Mutation and a Family History of Small Cell Ovarian Carcinoma [8P

Abstract

INTRODUCTION: Small cell carcinoma of the ovary hypercalcemic type is a rare malignancy that affects young women. Mutations in the SMARCA4 gene have been implicated as the main factor underlying oncogenesis and correlate strongly with disease presence. Several germline mutations with multiple affected family members have been described, although little is known about disease penetrance. METHODS: We describe our experience with a young asymptomatic patient found to have a SMARCA4 mutation and strong family history. RESULTS: A 15 year old female with two half-sisters diagnosed with SMARCA4 positive SCCOHT tested positive for the SMARCA4 gene mutation during screening of family members. The patient ultimately opted for prophylactic bilateral salpingo-oophorectomy. She underwent both genetic and reproductive endocrinology consultations preoperatively, but elected to forgo oocyte preservation. She is currently being treated with hormone replacement therapy. CONCLUSION: With recent advances in our understanding of the genetic basis of SCCOHT, identifying germline SMARCA4 mutation carriers at an early age will become more common. Management of these patients is challenging, given young age of disease onset, highly lethal course, and unknown gene penetrance. Prophylactic salpingo-oophorectomy is a reasonable therapeutic option, but requires aggressive management of subsequent surgical menopause and threatened fertility.