ArticleThe journal of pathology. Clinical research2021
SWI/SNF-deficiency defines highly aggressive undifferentiated endometrial carcinoma.
Article in The journal of pathology. Clinical research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
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39 citing papers in PubMed, 1 synthesis or guideline pooled it, 65 citations in OpenAlex.
- Prognostic value of the TCGA molecular classification in uterine carcinosarcoma.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2022Pooled it
- Dedifferentiation in endometrial cancer is associated with HLA-I silencing that may be restored by IFN-γ.The Journal of pathology · 2026Article
- Article
- When Immunophenotype Is Not Identity: A Clinicopathological Review of Neuroendocrine Differentiation in Tumors of the Female Genital Tract.Diagnostics (Basel, Switzerland) · 2026Review
- ARID1A deficiency reprograms the tumor secretome, enhancing microenvironmental remodeling and metastatic dissemination in endometrial carcinoma.Cell death & disease · 2026Article
- POLE-mutated endometrial carcinoma with extreme morphological and molecular heterogeneity: spatial clonal divergence in a multiple-classifier tumor.Virchows Archiv : an international journal of pathology · 2026Article
- An update on the role of SMARCA4 deficiency in gynecological neoplasms: how and where.Virchows Archiv : an international journal of pathology · 2026Review
- Endometrial carcinomas with solid basaloid morphology and geographic necrosis: clinicopathological and molecular features of 18 cases.Virchows Archiv : an international journal of pathology · 2026Article
- Analysis of DNA mismatch repair and microsatellite instability in molecular typing of endometrial carcinoma.Discover oncology · 2026Article
- Undifferentiated endometrial carcinoma: a case report.Journal of medical case reports · 2026Article
- Diversity within ovarian cancer subtypes and their tumor microenvironment.Frontiers in oncology · 2026Review
- Context is key: how diagnostic and prognostic markers are reshaping gynecologic pathology.The journal of pathology. Clinical research · 2025Review
- Shifted assembly and function of mSWI/SNF family subcomplexes underlie targetable dependencies in dedifferentiated endometrial carcinomas.bioRxiv : the preprint server for biology · 2025Article
- Distinct genomic subgroups and mutational patterns in undifferentiated/dedifferentiated endometrial carcinoma.BMC cancer · 2025Article
- Integrating Multi-Omics in Endometrial Cancer: From Molecular Insights to Clinical Applications.Cells · 2025Review
- A working group report from the 2024 National Cancer Institute / Gynecologic Cancer Steering Committee endometrial cancer clinical trials planning meeting: refining the approach to endometrial cancer in the immunotherapy era.Journal of the National Cancer Institute · 2025Article
- Molecular subtyping of endometrial carcinoma cell lines uncovers subtype-specific targetable vulnerabilities.NPJ precision oncology · 2025Article
- Prognostic values of molecular subtypes and SWI/SNF protein expression in de-differentiated/undifferentiated endometrial carcinoma.Histopathology · 2025Article
- Molecular subtypes and genomic landscape of undifferentiated and dedifferentiated endometrial cancer.International journal of gynecological cancer : official journal of the International Gynecological Cancer Society · 2025Article
- Exploring the Genetic and Clinical Landscape of Dedifferentiated Endometrioid Carcinoma.International journal of molecular sciences · 2025Article
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Authors and funding
11 authors at 6 institutions in 4 countries.
Funding
Abstract
Dedifferentiated/undifferentiated endometrial carcinoma (DDEC/UEC) is an endometrial cancer characterized by the presence of histologically undifferentiated carcinoma. Genomic inactivation of core switch/sucrose nonfermentable (SWI/SNF) complex proteins was recently identified in approximately two-thirds of DDEC/UEC. The aim of this study was to delineate the clinical behavior of SWI/SNF-deficient DDEC/UEC in comparison to SWI/SNF-intact DDEC/UEC. The study cohort consisted of 56 SWI/SNF-deficient DDEC/UEC (2 POLE-mutated), which showed either SMARCA4 (BRG1) loss, ARID1A/1B co-loss, or SMARCB1 (INI1) loss in the undifferentiated tumor, and 26 SWI/SNF-intact DDEC/UEC (4 POLE-mutated). The average age at diagnosis was 61 years for patients with SWI/SNF-deficient tumors and 64 years for SWI/SNF-intact tumors. Mismatch repair (MMR) protein deficiency was seen in 66% of SWI/SNF-deficient and 50% of SWI/SNF-intact tumors. At initial presentation, 55% of patients with SWI/SNF-deficient tumors had extrauterine disease spread in contrast to 38% of patients with SWI/SNF-intact tumors. The 2-year disease specific survival (DSS) for stages I and II disease was 65% for SWI/SNF deficient tumors relative to 100% for SWI/SNF-intact tumors (p = 0.042). For patients with stages III and IV disease, the median survival was 4 months for SWI/SNF-deficient tumors compared to 36 months for SWI/SNF-intact tumors (p = 0.0003). All six patients with POLE-mutated tumors, including one with stage IV SWI/SNF-deficient tumor were alive with no evidence of disease. Among the patients with advanced stage SWI/SNF-deficient tumors, 68% (21 of 31) received adjuvant or neoadjuvant chemotherapy (platinum/taxane-based) and all except the patient with a POLE-mutated tumor (20 of 21) experienced disease progression either during chemotherapy or within 4 months after its completion. These findings show that core SWI/SNF-deficiency defines a highly aggressive group of undifferentiated cancer characterized by rapid disease progression that is refractory to conventional platinum/taxane-based chemotherapy. This underscores the importance of accurate clinical recognition of this aggressive tumor and the need to consider alternative systemic therapy for these tumors.
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