ReviewDiagnostic pathology2021
Undifferentiated colonic neoplasm with SMARCA4 germline gene mutation and loss of SMARCA4 protein expression: a case report and literature review.
Review in Diagnostic pathology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- Intestinal SMARCA4-deficient undifferentiated carcinoma: a case series and systematic review of the literature.World journal of surgical oncology · 2026Pooled it
- SMARCA4-Deficient Undifferentiated Tumor of the Right Colon in a Patient With Ulcerative Colitis.Cureus · 2026Article
- SMARCA4-Deficient Carcinomas of the Small Intestine: A Systematic Review.Current oncology (Toronto, Ont.) · 2026Review
- Usefulness of BRG1 immunostaining in detecting SMARCA4 deficiency in "so-called" cancers of unknown primary in daily pathology practice.Diagnostic pathology · 2025Article
- SMARCA4-deficient primary bone sarcoma with "teratoid" features in a rhabdoid tumor predisposition syndrome patient.Virchows Archiv : an international journal of pathology · 2025Article
- SMARCA4-Deficient Undifferentiated Tumor of the Esophagus: Diagnostic Pitfalls in Immunohistochemical Profiles.International journal of surgical pathology · 2024Review
- 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
- Case report: Extraskeletal Ewing sarcoma with a germline pathogenic variant ofFrontiers in oncology · 2024Article
- Diagnosis and management of gastrointestinal SMARCA4-deficient undifferentiated tumors.Clinical journal of gastroenterology · 2023Article
- Case Report: SMARCA4 (BRG1)-deficient undifferentiated carcinoma of gallbladder with genetic analysis.Frontiers in oncology · 2023Article
- Article
- Commentary on: SMARCB1 as a novel diagnostic and prognostic biomarker for osteosarcoma.Bioscience reports · 2022Article
- SMARCA4-deficient rectal carcinoma with a sarcomatoid component: a case report.Clinical journal of gastroenterology · 2022Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNonsense mutation or inactivation of SMARCA4 (BRG1) is associated with a monomorphic undifferentiated histological appearance in tumors at different sites. The association between SMARCA4 alteration and undifferentiated colonic carcinoma needs to be further elucidated.
methodsA 61-year-old male patient presented to the hospital with intermittent epigastric pain in the right upper abdomen and abdominal distension. The enhanced computed tomography detected a mass in the hepatic flexure of the colon and multiple liver metastases.
resultsThe right hemicolectomy contained a 4.5-cm undifferentiated malignancy with cells arranged in sheets, abundant necrosis, and areas showing rhabdoid morphology. The immunohistochemistry result showed that these tumor cells were focally positive for cytokeratin (CK), CK8, and CK18; however, diffusely positive for vimentin, P53, Fli-1, and SALL-4. Notably, tumor cells showed a heterogeneous loss of SMARCA4 expression pattern and intact SMARCB1 expression. Next-generation sequencing showed a germline SMARCA4 c.3277C>T(p.R1093*)mutation, somatic APC mutation, and no abnormal SMARCB1 gene. The tumor exhibited microsatellite stability, negative PD-L1 expression, and few infiltrating CD8 + T cells. The patient died a month later after surgery.
conclusionsWe presented a rare case of undifferentiated colonic neoplasm with loss of SMARCA4 protein expression and germline SMARCA4 mutation. Moreover, the role of SMARCA4 alterations in tumor diagnosis and treatment was also summarized.
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