Small Cell Carcinoma of the Ovary, Hypercalcemic Type: Report of a Bilateral Case in a Teenager Associated with SMARCA4 Germline Mutation
Copyright policy )Small Cell Carcinoma of the Ovary, Hypercalcemic Type: Report of a Bilateral Case in a Teenager Associated with SMARCA4 Germline Mutation
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.
- Claude Bernard University Lyon 1 France
- Institut des Sciences Biologiques France
- Centre Léon Bérard France
- Hospices Civils de Lyon France
- Cancer Center of Lyon France
Ovarian Neoplasms, Lung Neoplasms, Adolescent, Biopsy, DNA Mutational Analysis, DNA Helicases, Nuclear Proteins, Bone Neoplasms, Immunohistochemistry, Magnetic Resonance Imaging, Fatal Outcome, Chemotherapy, Adjuvant, Biomarkers, Tumor, Disease Progression, Hypercalcemia, Humans, Female, Genetic Predisposition to Disease, Carcinoma, Small Cell, Germ-Line Mutation
Ovarian Neoplasms, Lung Neoplasms, Adolescent, Biopsy, DNA Mutational Analysis, DNA Helicases, Nuclear Proteins, Bone Neoplasms, Immunohistochemistry, Magnetic Resonance Imaging, Fatal Outcome, Chemotherapy, Adjuvant, Biomarkers, Tumor, Disease Progression, Hypercalcemia, Humans, Female, Genetic Predisposition to Disease, Carcinoma, Small Cell, Germ-Line Mutation
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