Small Cell Carcinoma of the Ovary (SCCO)
Overview
Small Cell Carcinoma of the Ovary (hypercalcemic type, SCCOHT) is a rare, aggressive malignancy occurring predominantly in young women, classified under Ovarian Cancer in OncoTree (parent: OVT). It is biologically defined by biallelic inactivation of the SWI/SNF chromatin-remodeling subunit SMARCA4, rendering it one of the most genomically simple human cancers.
Cohorts in the corpus
- 12 paired tumor/normal SCCOHT samples (MSKCC 1998–2012 plus collaborating centers); sequenced by MSK-IMPACT targeted panel (279 genes) — PMID:24658004
Recurrent alterations
- Biallelic inactivating SMARCA4 mutations (nonsense, frameshift, splice-site, intragenic deletions) in 100% of 12 SCCOHT tumors (P < 2.22 × 10⁻¹⁶); only 4 additional non-recurrent somatic mutations found in all other 278 sequenced genes combined — consistent with an ultra-simple genomic background PMID:24658004
- One of 12 cases harbored a germline SMARCA4 nonsense mutation with somatic loss of the wild-type allele, supporting a hereditary component PMID:24658004
Subtypes
- Hypercalcemic type (SCCOHT) — the dominant subtype characterized by SMARCA4 deficiency, young age at diagnosis, and paraneoplastic hypercalcemia; long-term survival ~33% even with disease confined to the ovary PMID:24658004
Therapeutic landscape
- SMARCA2 ATPase inhibition proposed as a synthetic-lethal strategy exploiting mutual exclusivity of BAF complex catalytic subunits (SMARCA4 vs SMARCA2); functional validation in SCCOHT-specific models is pending PMID:24658004
Sources
- PMID:24658004 — Jelinic et al. (2014), targeted sequencing establishing SMARCA4 as the defining driver of SCCOHT.
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