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 malig...

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Bibliographic Details
Published in:Pediatric and developmental pathology 2016-01, Vol.19 (1), p.56-60
Main Authors: Lavrut, Pierre-Marie, Le Loarer, François, Normand, Charline, Grosos, Céline, Dubois, Rémi, Buenerd, Annie, Conter, Cécile, Dijoud, Frédérique, Blay, Jean-Yves, Collardeau-Frachon, Sophie
Format: Article
Language:English
Subjects:
Adolescent
Biomarkers, Tumor - analysis
Biomarkers, Tumor - genetics
Biopsy
Bone Neoplasms - genetics
Bone Neoplasms - secondary
Cancer
Carcinoma, Small Cell - chemistry
Carcinoma, Small Cell - genetics
Carcinoma, Small Cell - secondary
Carcinoma, Small Cell - surgery
Chemotherapy, Adjuvant
Disease Progression
DNA Helicases - analysis
DNA Helicases - genetics
DNA Mutational Analysis
Fatal Outcome
Female
Genetic Predisposition to Disease
Germ-Line Mutation
Humans
Hypercalcemia - genetics
Hypercalcemia - pathology
Immunohistochemistry
Life Sciences
Lung Neoplasms - genetics
Lung Neoplasms - secondary
Magnetic Resonance Imaging
Nuclear Proteins - analysis
Nuclear Proteins - genetics
Ovarian Neoplasms - chemistry
Ovarian Neoplasms - genetics
Ovarian Neoplasms - pathology
Ovarian Neoplasms - surgery
Paraneoplastic Syndromes - genetics
Paraneoplastic Syndromes - pathology
Phenotype
Predictive Value of Tests
Time Factors
Tomography, X-Ray Computed
Transcription Factors - analysis
Transcription Factors - genetics
Treatment Outcome
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Description
Summary: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.
ISSN:1093-5266
1615-5742
DOI:10.2350/15-04-1624-CR.1