ArticleRare diseases (Austin, Tex.)2014
Loss of the tumor suppressor SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).
Article in Rare diseases (Austin, Tex.), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 58 citations in OpenAlex.
- Clinicopathological and molecular characteristics of small cell carcinoma of the ovary, hypercalcemic type: three case reports.Discover oncology · 2026Article
- Genetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications.Archives of gynecology and obstetrics · 2026Review
- Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): About three case reports.Gynecologic oncology reports · 2025Article
- Loss of SMARCA4 Leads to Intron Retention and Generation of Tumor-Associated Antigens in Small Cell Carcinoma of the Ovary, Hypercalcemic Type.Cancer research · 2025Article
- Review
- Super-enhancers and efficacy of triptolide in small cell carcinoma of the ovary hypercalcemic type.iScience · 2025Article
- A case report of small cell neuroendocrine carcinoma of the ovary and review of the literature.Frontiers in immunology · 2025Review
- Review
- Preclinical evidence in the assembly of mammalian SWI/SNF complexes: Epigenetic insights and clinical perspectives in human lung disease therapy.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Review
- SMARCA4 Loss and Mutated β-Catenin Induce Proliferative Lesions in the Murine Embryonic Cerebellum.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Article
- MYC overexpression and SMARCA4 loss cooperate to drive medulloblastoma formation in mice.Acta neuropathologica communications · 2023Article
- Case report: Heterogenous SMARCA4-deficient thoracic non-small cell lung carcinoma with various responses to nivolumab.Frontiers in immunology · 2023Article
- Case Report of Small Cell Carcinoma of the Ovary, Hypercalcemic Type (Ovarian Rhabdoid Tumor) withCurrent oncology (Toronto, Ont.) · 2022Review
- Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group.Familial cancer · 2021Article
- Re-assigning the histologic identities of COV434 and TOV-112D ovarian cancer cell lines.Gynecologic oncology · 2021Article
- Article
- Small-Cell Carcinoma of the Ovary, Hypercalcemic Type-Genetics, New Treatment Targets, and Current Management Guidelines.Clinical cancer research : an official journal of the American Association for Cancer Research · 2020Review
- SMARCA2-deficiency confers sensitivity to targeted inhibition of SMARCA4 in esophageal squamous cell carcinoma cell lines.Scientific reports · 2019Article
- The BAF complex in development and disease.Epigenetics & chromatin · 2019Review
- An In-Depth Look at Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Clinical Implications from Recent Molecular Findings.Journal of Cancer · 2019Review
Corrections and comments
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Authors and funding
17 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), is a rare and understudied cancer with a dismal prognosis. SCCOHT's infrequency has hindered empirical study of its biology and clinical management. However, we and others have recently identified inactivating mutations in the SWI/SNF chromatin remodeling gene SMARCA4 with concomitant loss of SMARCA4 protein in the majority of SCCOHT tumors.(1-4) Here we summarize these findings and report SMARCA4 status by targeted sequencing and/or immunohistochemistry (IHC) in an additional 12 SCCOHT tumors, 3 matched germlines, and the cell line SCCOHT-1. We also report the identification of a homozygous inactivating mutation in the gene SMARCB1 in one SCCOHT tumor with wild-type SMARCA4, suggesting that SMARCB1 inactivation may also play a role in the pathogenesis of SCCOHT. To date, SMARCA4 mutations and protein loss have been reported in the majority of 69 SCCOHT cases (including 2 cell lines). These data firmly establish SMARCA4 as a tumor suppressor whose loss promotes the development of SCCOHT, setting the stage for rapid advancement in the biological understanding, diagnosis, and treatment of this rare tumor type.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.