ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2016
Concomitant loss of SMARCA2 and SMARCA4 expression in small cell carcinoma of the ovary, hypercalcemic type.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 73 citations in OpenAlex.
- Pregnancy-Associated Small Cell Carcinoma of the Ovary, Hypercalcaemic Type Initially Misdiagnosed as Granulosa Cell Tumour: Diagnostic Pitfalls, Treatment Challenges, and Molecular Confirmation by Next-Generation Sequencing.Cancer reports (Hoboken, N.J.) · 2026Article
- SMARCA4 loss reprograms p300 chromatin occupancy to subvert p53-mediated transcriptional repression in ovarian small cell carcinoma.Nature communications · 2026Article
- Clinicopathological and molecular characteristics of small cell carcinoma of the ovary, hypercalcemic type: three case reports.Discover oncology · 2026Article
- SMARCA4/2 loss reduces BCL-xL expression and confers a druggable MCL1 dependency in cancer.NPJ precision oncology · 2026Article
- SWI/SNF protein expression in anaplastic carcinomatous mural nodules of ovarian mucinous tumors.Virchows Archiv : an international journal of pathology · 2025Article
- Usefulness of BRG1 immunostaining in detecting SMARCA4 deficiency in "so-called" cancers of unknown primary in daily pathology practice.Diagnostic pathology · 2025Article
- Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): About three case reports.Gynecologic oncology reports · 2025Article
- Primary gastric SMARCA4-deficient carcinosarcoma and sarcomatoid carcinoma: Two case reports.Frontiers in oncology · 2025Article
- Review
- Alanine supplementation exploits glutamine dependency induced by SMARCA4/2-loss.Nature communications · 2023Article
- The SWI/SNF Complex: A Frequently Mutated Chromatin Remodeling Complex in Cancer.Cancer treatment and research · 2023Article
- Case Report: SMARCA4 (BRG1)-deficient undifferentiated carcinoma of gallbladder with genetic analysis.Frontiers in oncology · 2023Article
- Three-Dimensional Modelling of Ovarian Cancer: From Cell Lines to Organoids for Discovery and Personalized Medicine.Frontiers in bioengineering and biotechnology · 2022Review
- SMARCA4/2 loss inhibits chemotherapy-induced apoptosis by restricting IP3R3-mediated CaNature communications · 2021Article
- Combinatorial CRISPR screen identifies fitness effects of gene paralogues.Nature communications · 2021Article
- Re-assigning the histologic identities of COV434 and TOV-112D ovarian cancer cell lines.Gynecologic oncology · 2021Article
- 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
- [Research Progress of CDK4/6 Inhibitors in Non-small Cell Lung Cancer].Zhongguo fei ai za zhi = Chinese journal of lung cancer · 2020Review
- SWI/SNF Complex Mutations in Gynecologic Cancers: Molecular Mechanisms and Models.Annual review of pathology · 2020Review
- BRM: the core ATPase subunit of SWI/SNF chromatin-remodelling complex-a tumour suppressor or tumour-promoting factor?Epigenetics & chromatin · 2019Review
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Authors and funding
10 authors at 1 institution in 1 country.
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Abstract
Small cell carcinoma of the ovary, hypercalcemic type is an aggressive tumor generally affecting young women with limited treatment options. Mutations in SMARCA4, a catalytic subunit of the SWI/SNF chromatin remodeling complex, have recently been identified in nearly all small cell carcinoma of the ovary, hypercalcemic type cases and represent a signature molecular feature for this disease. Additional biological dependencies associated with small cell carcinoma of the ovary, hypercalcemic type have not been identified. SMARCA2, another catalytic subunit of the SWI/SNF complex mutually exclusive with SMARCA4, is thought to be post-translationally silenced in various cancer types. We analyzed 10 archival small cell carcinoma of the ovary, hypercalcemic type cases for SMARCA2 protein expression by immunohistochemistry and found that SMARCA2 expression was lost in all but one case. None of the 50 other tumors that primarily or secondarily involved the ovary demonstrated concomitant loss of SMARCA2 and SMARCA4. Deep sequencing revealed that this loss of SMARCA2 expression is not the result of mutational inactivation. In addition, we established a small cell carcinoma of the ovary, hypercalcemic type patient-derived xenograft and confirmed the loss of SMARCA2 in this in vitro model. This patient-derived xenograft model, established from a recurrent tumor, also had unexpected mutational features for this disease, including functional mutations in TP53 and POLE. Taken together, our data suggest that concomitant loss of SMARCA2 and SMARCA4 is another hallmark of small cell carcinoma of the ovary, hypercalcemic type-a finding that offers new opportunities for therapeutic interventions.
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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.