Characterization and Clinical Outcomes of DNA Mismatch Repair-deficient Small Bowel Adenocarcinoma.

ABSTRACT:

Purpose

The prevalence and clinical characteristics of small bowel adenocarcinomas (SBA) in the setting of Lynch syndrome have not been well studied. We characterized SBA according to DNA mismatch repair and/or microsatellite instability (MMR/MSI) and germline mutation status and compared clinical outcomes.

Experimental design

A single-institution review identified 100 SBAs. Tumors were evaluated for MSI via MSIsensor and/or corresponding MMR protein expression via IHC staining. Germline DNA was analyzed for mutations in known cancer predisposition genes, including MMR (MLH1, MSH2, MSH6, PMS2, and EPCAM). Clinical variables were correlated with MMR/MSI status.

Results

Twenty-six percent (26/100; 95% confidence interval, 18.4-35.4) of SBAs exhibited MMR d

SUBMITTER: Latham A 

PROVIDER: S-EPMC7925361 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature