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.
Keywords:
SMARCA4/BRG1; malignant rhabdoid tumor; ovarian small cell carcinoma of hypercalcemic type; ovarian tumors; pathology; pediatric tumors.
MeSH terms
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Adolescent
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Biomarkers, Tumor / analysis
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Biomarkers, Tumor / genetics*
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Biopsy
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Bone Neoplasms / genetics
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Bone Neoplasms / secondary
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Carcinoma, Small Cell / chemistry
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Carcinoma, Small Cell / genetics*
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Carcinoma, Small Cell / secondary
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Carcinoma, Small Cell / surgery
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Chemotherapy, Adjuvant
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DNA Helicases / analysis
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DNA Helicases / genetics*
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DNA Mutational Analysis
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Disease Progression
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Fatal Outcome
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Female
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Genetic Predisposition to Disease
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Germ-Line Mutation*
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Humans
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Hypercalcemia / genetics*
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Hypercalcemia / pathology
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Immunohistochemistry
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Lung Neoplasms / genetics
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Lung Neoplasms / secondary
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Magnetic Resonance Imaging
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Nuclear Proteins / analysis
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Nuclear Proteins / genetics*
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Ovarian Neoplasms / chemistry
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Ovarian Neoplasms / genetics*
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Ovarian Neoplasms / pathology
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Ovarian Neoplasms / surgery
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Paraneoplastic Syndromes / genetics*
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Paraneoplastic Syndromes / pathology
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Phenotype
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Predictive Value of Tests
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Time Factors
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Tomography, X-Ray Computed
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Transcription Factors / analysis
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Transcription Factors / genetics*
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Treatment Outcome
Substances
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Biomarkers, Tumor
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Nuclear Proteins
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Transcription Factors
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SMARCA4 protein, human
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DNA Helicases