ArticleGynecologic oncology2020
Germline mutations of SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type and in SMARCA4-deficient undifferentiated uterine sarcoma: Clinical features of a single family and comparison of large cohorts.
Article in Gynecologic oncology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- Cancer Predisposition Genes in Adolescents and Young Adults (AYAs): a Review Paper from the Italian AYA Working Group.Current oncology reports · 2022Pooled it
- A phase II basket trial of dual anti-CTLA-4 and anti-PD-1 blockade in rare tumors (DART) SWOG S1609: durable responses and delayed pseudoprogression in small cell carcinoma of the ovary, hypercalcemic type cohort.Cancer communications (London, England) · 2025Trial
- Osimertinib Resistance in EGFR-Mutated Non-Small Cell Lung Cancer: Mechanisms and Therapeutic Strategies.MedComm · 2026Review
- 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
- Genetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications.Archives of gynecology and obstetrics · 2026Review
- The Evolving Molecular Landscape of Uterine Mesenchymal Tumors: Diagnostic and Therapeutic Implications.Cancers · 2025Review
- A case report of small cell neuroendocrine carcinoma of the ovary and review of the literature.Frontiers in immunology · 2025Review
- Tumor-agnostic therapy: a potential therapeutic approach for SMARCA4-deficient malignancies.Therapeutic advances in medical oncology · 2025Review
- Review
- SMARCA4‑deficient uterine adnexal tumor with ascites: A case report and literature review.Oncology letters · 2024Article
- A Novel DNA Variant inInternational journal of molecular sciences · 2024Article
- The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification.Molecular genetics & genomic medicine · 2023Article
- Germline pathogenicJournal of medical genetics · 2023Article
- Review
- Pathological characteristics and immune microenvironment of SMARCA4-deficient undifferentiated uterine sarcoma.Diagnostic pathology · 2023Article
- Sex- and Co-Mutation-Dependent Prognosis in Patients with SMARCA4-Mutated Malignancies.Cancers · 2023Article
- GermlineJCO precision oncology · 2022Article
- Non-gestational choriocarcinoma with hyperprogression on pembrolizumab: A case report and review of the literature.Gynecologic oncology reports · 2022Article
- Case Report of Small Cell Carcinoma of the Ovary, Hypercalcemic Type (Ovarian Rhabdoid Tumor) withCurrent oncology (Toronto, Ont.) · 2022Review
- Hereditary Gynecologic Cancer Syndromes - A Narrative Review.OncoTargets and therapy · 2022Review
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
Abstract
objectiveSmall cell carcinoma of the ovary, hypercalcemic type (SCCOHT) and SMARCA4-deficient undifferentiated uterine sarcoma (SMARCA4-DUS) are rare and aggressive tumors, primarily affecting pre- and perimenopausal women. Inactivating SMARCA4 mutations are thought to be the driving molecular events in the majority of these tumors. Here, we report the clinical course of a family with germline SMARCA4 mutation and compare large cohorts of these rare tumor types.
methodsWe extracted clinico-pathological medical record data for the family with germline SMARCA4 mutation. Clinico-genomic data from SCCOHT and SMARCA4-DUS cohorts were retrospectively extracted from the archives of a large CLIA-certified reference molecular laboratory.
resultsWe identified a single family with an inherited germline SMARCA4 mutation, in which two different family members developed either SCCOHT or SMARCA4-DUS, both of whom died within one year of diagnosis, despite aggressive surgical, chemotherapy and immunotherapy treatment. Retrospective comparative analysis of large SCCOHT (n = 48) and SMARCA4-DUS (n = 17) cohorts revealed that SCCOHT patients were younger (median age: 28.5 vs. 49.0) and more likely to have germline SMARCA4 alterations (37.5% vs. 11.8%) than SMARCA4-DUS patients.
conclusionsGrowing understanding of the role SMARCA4 plays in the pathogenesis of these rare cancers may inform recommended genetic testing and counseling in families with these tumor types.
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