title: Biallelic somatic SMARCA4 mutations in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).
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.
authors.affiliation: Department of Paediatric Haematology and Oncology, Addenbrooke's Hospital, Cambridge, UK.
authors.forename: Shivani
authors.initials: S
authors.lastname: Bailey
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Murray
authors.forename: Leora
authors.initials: L
authors.lastname: Witkowski
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Hook
authors.forename: Martin
authors.initials: M
authors.lastname: Hasselblatt
authors.forename: Robin
authors.initials: R
authors.lastname: Crawford
authors.forename: William D
authors.initials: WD
authors.lastname: Foulkes
authors.forename: Marc
authors.initials: M
authors.lastname: Tischkowitz
authors.forename: James C
authors.initials: JC
authors.lastname: Nicholson
mesh_terms: D000293:Adolescent; D018288:Carcinoma, Small Cell / Q000235:genetics* / Q000473:pathology; D004265:DNA Helicases / Q000235:genetics*; D005260:Female; D006801:Humans; D006934:Hypercalcemia / Q000235:genetics* / Q000473:pathology; D019656:Loss of Heterozygosity; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins; D014157:Transcription Factors; C084108:SMARCA4 protein, human; D004265:DNA Helicases
keywords: BRG1; INI1; SCCOHT; SMARCA4; SMARCB1; malignant rhabdoid tumor of the ovary