Fertility Preservation and Risk Reducing Surgery: Can We Have it All?

Abstract

Background: Small cell ovarian cancer hypercalcemic type (SCCOHT), is a rare and highly aggressive ovarian tumor almost exclusively driven by pathogenic mutations in the SMARCA4 gene1,2. 40% of cases are linked to inherited pathologic variants. SMARCA4 is autosomal dominant with unknown penetrance1. Familial inheritance has been linked with earlier onset disease and all cases of SCCOHT in patients < 15 years old. Average age of diagnosis of SCCOHT is 23.9; long-term survival is poor and the majority of patients found to have extraovarian spread at time of diagnosis3.