title: Small Cell Carcinoma of the Ovary, Hypercalcemic Type: Report of a Bilateral Case in a Teenager Associated with SMARCA4 Germline Mutation.
abstract: Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), is a highly aggressive neoplasm that typically occurs in young females. Paraneoplastic hypercalcemia is associated in two thirds of the cases. Recent studies demonstrated that this rare tumor harbors the same molecular features of malignant rhabdoid tumor secondary to SMARCA4/BRG1 mutations. We illustrate herein a typical bilateral case of SCCOHT with comprehensive molecular characterization in a 14-year-old girl. We also discuss the value of SMARCA4 immunostaining in the diagnostic approach of undifferentiated ovarian and pelvic malignancies.
authors.affiliation: 1 Department of Pathology, Hôpital Femme Mère Enfant, CHU de Lyon, France.
authors.forename: Pierre-Marie
authors.initials: PM
authors.lastname: Lavrut
authors.affiliation: 2 Department of Biopathology, Centre Léon Bérard, Lyon, France.|3 Université Claude Bernard Lyon, Lyon, France.|4 Cancer Research Center of Lyon, INSERM U1052, Lyon, France.
authors.forename: François
authors.initials: F
authors.lastname: Le Loarer
authors.affiliation: 5 Department of Pediatric Oncology, Centre Léon Bérard, Lyon, France.
authors.forename: Charline
authors.initials: C
authors.lastname: Normand
authors.affiliation: 6 Department of Surgery, Hôpital Femme Mère Enfant, CHU de Lyon, France.
authors.forename: Céline
authors.initials: C
authors.lastname: Grosos
authors.affiliation: 6 Department of Surgery, Hôpital Femme Mère Enfant, CHU de Lyon, France.
authors.forename: Rémi
authors.initials: R
authors.lastname: Dubois
authors.affiliation: 1 Department of Pathology, Hôpital Femme Mère Enfant, CHU de Lyon, France.
authors.forename: Annie
authors.initials: A
authors.lastname: Buenerd
authors.affiliation: 5 Department of Pediatric Oncology, Centre Léon Bérard, Lyon, France.
authors.forename: Cécile
authors.initials: C
authors.lastname: Conter
authors.affiliation: 1 Department of Pathology, Hôpital Femme Mère Enfant, CHU de Lyon, France.|3 Université Claude Bernard Lyon, Lyon, France.
authors.forename: Frédérique
authors.initials: F
authors.lastname: Dijoud
authors.affiliation: 3 Université Claude Bernard Lyon, Lyon, France.|4 Cancer Research Center of Lyon, INSERM U1052, Lyon, France.|7 Department of Oncology, Centre Leon Bérard, Lyon, France.
authors.forename: Jean-Yves
authors.initials: JY
authors.lastname: Blay
authors.affiliation: 1 Department of Pathology, Hôpital Femme Mère Enfant, CHU de Lyon, France.|3 Université Claude Bernard Lyon, Lyon, France.
authors.forename: Sophie
authors.initials: S
authors.lastname: Collardeau-Frachon
mesh_terms: D000293:Adolescent; D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics*; D001706:Biopsy; D001859:Bone Neoplasms / Q000235:genetics / Q000556:secondary; D018288:Carcinoma, Small Cell / Q000737:chemistry / Q000235:genetics* / Q000556:secondary / Q000601:surgery; D017024:Chemotherapy, Adjuvant; D004265:DNA Helicases / Q000032:analysis / Q000235:genetics*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D006934:Hypercalcemia / Q000235:genetics* / Q000473:pathology; D007150:Immunohistochemistry; D008175:Lung Neoplasms / Q000235:genetics / Q000556:secondary; D008279:Magnetic Resonance Imaging; D009687:Nuclear Proteins / Q000032:analysis / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000737:chemistry / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D010257:Paraneoplastic Syndromes / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D011237:Predictive Value of Tests; D013997:Time Factors; D014057:Tomography, X-Ray Computed; D014157:Transcription Factors / Q000032:analysis / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: D014408:Biomarkers, Tumor; D009687:Nuclear Proteins; D014157:Transcription Factors; C084108:SMARCA4 protein, human; D004265:DNA Helicases
keywords: SMARCA4/BRG1; malignant rhabdoid tumor; ovarian small cell carcinoma of hypercalcemic type; ovarian tumors; pathology; pediatric tumors