Colonoscopy and Upper Endoscopy Surveillance in Lynch Syndrome: A Longitudinal Study From a Large Tertiary Healthcare System

Abstract

Background and AimsLynch syndrome (LS) is caused by pathogenic mutations in mismatch repair (MMR) genes. There is limited data on differences in colorectal cancer (CRC) surveillance by MMR genes, and an international consensus on surveillance based on genes is not established. We aimed to evaluate colonoscopy and EGD surveillance outcomes and compare CRC surveillance findings by the mutated gene. Methods101 patients with LS were included and colonoscopy results were compared by MMR mutation. Primary outcomes included the development and recurrence of adenoma, CRC, high-grade dysplasia (HGD), advanced adenoma (AA), and sessile serrated lesions (SSL). Logistic regressions evaluated the relationship between genes and the development or recurrence of primary outcomes. Survival analysis evaluated primary outcomes in patients with > 2 colonoscopies. EGD results were summarized. Results327 colonoscopies were reviewed. Compared to PMS2, MLH1 was associated with a higher risk of AA/HGD/CRC development (OR 9.85, 95% CI: 1.97-77.24) and MSH2 was associated with a higher risk of adenoma development (OR 4.17, 95% CI: 1.11-17.61). Among those with >2 colonoscopies, MLH1 (HR 18.98, 95% CI: 1.31-274.51) and MSH6 (HR 15.03, 95% CI: 1.16-194.65) had a higher risk of SSL compared to MSH2. Among patients who had adenoma detected once, MLH1 had a higher risk of adenoma recurrence compared to MSH6 (OR 14.59, 95% CI: 1.53-244.30) and PMS2 (OR 47.15, 95% CI: 4.26-984.28). MSH2 had a higher risk of adenoma recurrence compared to PMS2 (OR 11.89, 95% CI: 1.38-164.78). Of 170 EGDs, an actionable finding was identified in 16% of patients during their first three EGDs. ConclusionSurveillance colonoscopy outcomes differed in patients with Lynch Syndrome and suggest the need to guide surveillance based on MMR gene mutation.