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Biallelic somatic SMARCA4 mutations in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).


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Authors

Bailey, Shivani 
Murray, Matthew J 
Witkowski, Leora 
Hook, Elizabeth 
Hasselblatt, Martin 

Abstract

Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare, aggressive tumor that primarily affects young women. SCCOHT has recently been identified as a monogenic disorder caused by germline and/or somatic SMARCA4 mutations. We describe a 15-year-old Caucasian female with a SCCOHT harboring a previously unreported somatic mutation in the SMARCA4 gene (c.1757delA; p.K586.fs) with loss of heterozygosity. No germline mutation was identified. Subsequent immunohistochemical staining confirmed loss of SMARCA4 protein. These molecular findings will aid with SCCOHT diagnosis through immunohistochemical staining for SMARCA4 and in the future may have implications for the management of this disease.

Description

Keywords

BRG1, INI1, SCCOHT, SMARCA4, SMARCB1, malignant rhabdoid tumor of the ovary, Adolescent, Carcinoma, Small Cell, DNA Helicases, Female, Humans, Hypercalcemia, Loss of Heterozygosity, Mutation, Nuclear Proteins, Ovarian Neoplasms, Transcription Factors

Journal Title

Pediatr Blood Cancer

Conference Name

Journal ISSN

1545-5009
1545-5017

Volume Title

62

Publisher

Wiley