Primary SMARCB1-deficient intestinal carcinoma: Clinicopathological and molecular characterization of three cases with analysis of published data.

Pathol Res PractMay 26, 2026 (epub)
Case ReportOncology (Medical)Gastroenterology

Chenxi Shi, San-En Li, Nan Jiang et al.

✦ AI-curated · Sources linked

Case in brief

This report details three cases of primary SMARCB1-deficient intestinal carcinoma (SdIC), a rare and aggressive cancer type. Patients, predominantly male with a median age of 62.5 years, presented with advanced-stage disease. Tumors exhibited rhabdoid morphology and showed loss of intestinal differentiation markers. Molecular profiling revealed significant genetic alterations. The findings underscore the importance of SMARCB1 testing for accurate diagnosis and management.

Diagnostic / clinical pearl

Clinicians should consider SMARCB1 deficiency in the differential diagnosis of aggressive intestinal carcinomas, particularly when faced with tumors exhibiting rhabdoid morphology.

Why it matters

Increased awareness of primary SMARCB1-deficient intestinal carcinoma can lead to earlier diagnosis and better access to targeted therapies, improving patient outcomes.

Source

PubMed · PMID 42208359

Published in Pathol Res Pract. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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