Journal
CLINICAL CANCER RESEARCH
Volume 26, Issue 15, Pages 3908-3917Publisher
AMER ASSOC CANCER RESEARCH
DOI: 10.1158/1078-0432.CCR-19-3797
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Funding
- Eve Appeal research charity
- SCCOHT
- European Research Council under the European Union's Seventh Framework Programme (FP/2007-2013)/ERC Grant [310018]
- Cancer Research UK (CanGene-CanVar Catalyst Award) [C61296/A27223]
- CIHR [MOP-130540, PJT-156233]
- U.S. NCI [R01CA195670]
- Princess Margaret Cancer Foundation
- Ontario Institute Cancer Research Ovarian Translational Research Initiative
- U.S. DOD grant [W81XWH-15-1-0429]
- Canadian Institutes of Health Research [FDN-148390]
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Small-cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare and highly aggressive ovarian malignancy. In almost all cases, it is associated with somatic and often germline pathogenic variants in SMARCA4, which encodes for the SMARCA4 protein (BRG1), a subunit of the SWI/SNF chromatin remodeling complex. Approximately 20% of human cancers possess pathogenic variants in at least one SWI/SNF subunit. Because of their role in regulating many important cellular processes including transcriptional control, DNA repair, differentiation, cell division, and DNA replication, SWI/SNF complexes with mutant subunits are thought to contribute to cancer initiation and progression. Fewer than 500 cases of SCCOHT have been reported in the literature and approximately 60% are associated with hypercalcemia. SCCOHT primarily affects females under 40 years of age who usually present with symptoms related to a pelvic mass. SCCOHT is an aggressive cancer, with long-term survival rates of 30% in early-stage cases. Although various treatment approaches have been proposed, there is no consensus on surveillance and therapeutic strategy. An international group of multidisciplinary clinicians and researchers recently formed the International SCCOHT Consortium to evaluate current knowledge and propose consensus surveillance and therapeutic recommendations, with the aim of improving outcomes. Here, we present an overview of the genetics of this cancer, provide updates on new treatment targets, and propose management guidelines for this challenging cancer.
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