Primary SMARCB1-deficient intestinal carcinoma: Clinicopathological and molecular characterization of three cases with analysis of published data.
Chenxi Shi, San-En Li, Nan Jiang et al.
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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.