title: Small-Cell Carcinoma of the Ovary of Hypercalcemic Type (Malignant Rhabdoid Tumor of the Ovary): A Review with Recent Developments on Pathogenesis.
abstract: Small-cell carcinoma of the ovary of hypercalcemic type (SCCOHT) is a highly malignant and aggressive tumor and is the most common undifferentiated ovarian malignancy to occur in women younger than 40. SCCOHT is characterized by deleterious germline or somatic mutations in SMARCA4. Given the striking morphologic and molecular similarities between SCCOHT and atypical teratoid/malignant rhabdoid tumor, we propose this should be reflected in a nomenclature change and that SCCOHT be renamed malignant rhabdoid tumor of the ovary. SMARCA4 (BRG1) immunohistochemistry is useful in diagnosis because there is loss of nuclear immunoreactivity in SCCOHT but retention of staining in mimics.
authors.affiliation: Department of Human Genetics, McGill University, 3755 Cote Ste Catherine, Montreal, Quebec H3T1E2, Canada.
authors.forename: Leora
authors.initials: L
authors.lastname: Witkowski
authors.affiliation: Department of Pediatric Oncology, McGill University, 3755 Cote Ste Catherine, Montreal, Quebec H3T1E2, Canada.
authors.forename: Catherine
authors.initials: C
authors.lastname: Goudie
authors.affiliation: Department of Human Genetics, McGill University, 3755 Cote Ste Catherine, Montreal, Quebec H3T1E2, Canada.
authors.forename: William D
authors.initials: WD
authors.lastname: Foulkes
authors.affiliation: Department of Pathology, Royal Group of Hospitals Trust, Belfast Health and Social Care Trust, Grosvenor Road, Belfast, Northern Ireland BT12 6BA, UK. Electronic address: glenn.mccluggage@belfasttrust.hscni.net.
authors.forename: W Glenn
authors.initials: WG
authors.lastname: McCluggage
mesh_terms: D014408:Biomarkers, Tumor / Q000378:metabolism; D018288:Carcinoma, Small Cell / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D004265:DNA Helicases / Q000235:genetics* / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D006934:Hypercalcemia / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics / Q000378:metabolism; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism
chemical_list: D014408:Biomarkers, Tumor; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D014157:Transcription Factors; C084108:SMARCA4 protein, human; D004265:DNA Helicases
keywords: Immunohistochemistry; Molecular genetics; Mutation; Ovary; SMARCA4; Small cell carcinoma of hypercalcemic type