Small Cell Carcinoma of the Ovary, Hypercalcemic Type: Report of a Bilateral Case in a Teenager Associated with SMARCA4 Germline Mutation

Author:

Lavrut Pierre-Marie1,Le Loarer François234,Normand Charline5,Grosos Céline6,Dubois Rémi6,Buenerd Annie1,Conter Cécile5,Dijoud Frédérique13,Blay Jean-Yves347,Collardeau-Frachon Sophie13

Affiliation:

1. Department of Pathology, Hôpital Femme Mère Enfant, CHU de Lyon, France

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

5. Department of Pediatric Oncology, Centre Léon Bérard, Lyon, France

6. Department of Surgery, Hôpital Femme Mère Enfant, CHU de Lyon, France

7. Department of Oncology, Centre Leon Bérard, Lyon, France

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.

Publisher

SAGE Publications

Subject

General Medicine,Pathology and Forensic Medicine,Pediatrics, Perinatology, and Child Health

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