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Biallelic somatic SMARCA4 mutations in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)
Author(s) -
Bailey Shivani,
Murray Matthew J.,
Witkowski Leora,
Hook Elizabeth,
Hasselblatt Martin,
Crawford Robin,
Foulkes William D.,
Tischkowitz Marc,
Nicholson James C.
Publication year - 2015
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.25279
Subject(s) - smarca4 , medicine , somatic cell , ovary , small cell carcinoma , carcinoma , ovarian carcinoma , cancer research , pathology , genetics , biology , ovarian cancer , cancer , gene , epigenetics , chromatin remodeling
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. Pediatr Blood Cancer 2015;62:728–730. © 2014 Wiley Periodicals, Inc.