ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2019
SMARCA4 inactivation defines a subset of undifferentiated uterine sarcomas with rhabdoid and small cell features and germline mutation association.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 81 citations in OpenAlex.
- SMARCA4-deficient carcinoma of the head and neck region: report of 8 new sinonasal and non-sinonasal cases and literature review.Virchows Archiv : an international journal of pathology · 2026Review
- ESR1::NCOA2/3 fusions in uterine neoplasms with adenosarcoma-like morphology: clinicopathologic and molecular features of 12 cases and review of the literature.Virchows Archiv : an international journal of pathology · 2026Article
- PRaG5.0 combined with chemotherapy and sequential chemoimmunotherapy for massive SMARCA4-deficient undifferentiated tumor of the cervix: case report.Frontiers in immunology · 2026Article
- Clinicopathological and Genomic Analysis ofCancer management and research · 2026Article
- The Evolving Molecular Landscape of Uterine Mesenchymal Tumors: Diagnostic and Therapeutic Implications.Cancers · 2025Review
- The Potential of Immunotherapy for SMARCA4-Deficient Undifferentiated Uterine Sarcoma (SDUS).Biomolecules · 2024Article
- SMARCA4‑deficient uterine adnexal tumor with ascites: A case report and literature review.Oncology letters · 2024Article
- Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Review
- Translational Aspects of Epithelioid Sarcoma: Current Consensus.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Review
- Germline pathogenicJournal of medical genetics · 2023Article
- Pathological characteristics and immune microenvironment of SMARCA4-deficient undifferentiated uterine sarcoma.Diagnostic pathology · 2023Article
- Targeted Treatment of Soft-Tissue Sarcoma.Journal of personalized medicine · 2023Review
- SMARCA4-associated schwannomatosis.Acta neuropathologica · 2023Article
- The Recent Advances in Molecular Diagnosis of Soft Tissue Tumors.International journal of molecular sciences · 2023Review
- Primary cutaneous SMARCA4-deficient undifferentiated malignant neoplasm: first two cases with clinicopathologic and molecular comparison to eight visceral counterparts.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- GermlineJCO precision oncology · 2022Article
- The first case of SMARCA4-deficient sarcoma of stomach.Clinical journal of gastroenterology · 2022Article
- SMARCA4-deficient rectal carcinoma with a sarcomatoid component: a case report.Clinical journal of gastroenterology · 2022Article
- Hereditary Gynecologic Cancer Syndromes - A Narrative Review.OncoTargets and therapy · 2022Review
- Review
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A rare subset of aggressive SMARCA4-deficient uterine sarcomas has been recently proposed, with only a limited number of cases having been previously described. Here, we identify 16 additional cases of SMARCA4-deficient uterine sarcoma from the database of a large, CLIA-certified and CAP-accredited, reference molecular laboratory, and we expand on their clinicopathological and genomic features. Median patient's age was 49 years (range 32-70). Most tumors were aggressive with distant metastasis. SMARCA4-deficient uterine sarcoma demonstrated predominantly rhabdoid or large epithelioid cells with abundant cytoplasm, but also had varying degrees of small cell and spindle cell morphology. Tumors were microsatellite stable and exhibited no other or only few co-occurring genomic alterations by comprehensive genomic profiling. We discovered one patient, who developed SMARCA4-deficient uterine sarcoma at the age of 55, had a germline SMARCA4 mutation, whose daughter had previously died of small cell carcinoma of the ovary, hypercalcemic type, at the age of 32. Our data support the notion that SMARCA4 inactivation is the driver oncogenic event of a morphologically and molecularly distinct form of uterine sarcoma. Identification of SMARCA4-deficient uterine sarcomas may be clinically important due to their aggressive behavior, germline association, and emerging targeted therapies.
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