Novel germline SMARCA4 mutation in Small Cell Carcinoma of the Ovary, Hypercalcemic Type

Abstract

Small Cell Carcinoma of the Ovary-Hypercalcemic Type (SCCOHT) is an aggressive tumor that affects young females, typically in the second decade of life. The patients with SCCOHT harbor somatic or germline mutations in the SMARCA4 gene. Germline mutations cause Rhabdoid Tumor Predisposition Syndrome (RTPS) type 2. The median age of diagnosis of RTPS is four to seven months, and most cases of RTPS are diagnosed before reaching two years of age. RTPS2 predisposes the female carrier to an ill-defined risk of developing SCCOHT before attaining puberty. We report a case of SCCOHT in an 18-year-old female, considerably later than inherited SCCOHT, with a novel deleterious germline mutation in SMARCA4.

Keywords

• SMARCA4
• RTPS-2
• SCCOHT