Abstract

Introduction: There is a paucity of data supporting esophago-gastro-duodenoscopy (EGD) surveillance in patients with Lynch Syndrome (LS). Published guidelines suggest consideration of baseline EGD with testing and treatment for H pylori if present; however, no consensus is reached for ongoing EGD surveillance. In the last two years, some data suggesting the benefit of EGD surveillance has been published, but more evidence is needed. Our aim was to contribute to this growing body of evidence by assessing the prevalence of clinically actionable findings (CAF) in a cohort of asymptomatic patients with LS undergoing EGD surveillance. Methods: We undertook a retrospective review of a prospectively maintained database of patients with LS. Asymptomatic patients who underwent > 1 surveillance EGD were included. Demographics, genotype, and EGD findings were reviewed. CAF, defined as neoplasia (adenomas, cancer) and other findings requiring treatment or surveillance were reported. These include Barrett’s esophagus, H. pylori, fundic gland polyps with high-grade dysplasia, pyloric gland adenomas, tubular adenomas, tubulovillous adenomas, villous adenomas, hyperplastic polyps >5mm, and esophageal, gastric, or duodenal cancer. Results: 323 patients underwent 717 EGDs starting at a median age of 49.5 years. On average, each patient had 2 EGDs with an interval of 2.3 years between exams. 65 CAF were identified in 57 patients (17.6%). 22.7% of CAF were identified on baseline EGD and the remaining 77.3% on surveillance (Table 1). 5 asymptomatic patients (1.5%) had an UGI cancer detected during surveillance, all at early stage, including one patient each with BE-related esophageal adenocarcinoma, gastric neuroendocrine tumor, and gastric adenocarcinoma, and two patients with duodenal adenocarcinoma. Four patients had an MSH2 PV and 1 had an MLH1 PV. Two cancers were found on baseline and three on follow-up EGD. Conclusion: CAF were found in approximately 1 in 6 asymptomatic patients with LS undergoing EGD surveillance including 1.5% with UGI cancer, all detected at early stage. Our study is novel by demonstrating the utility of both baseline and follow-up surveillance EGD, whereupon the majority of CAF were found. Given that the rate of complications and expense of EGD are low, the prevalence and incidence of CAF on surveillance EGD is high, and the stage benefit associated with surveillance detected UGI cancer is favorable, we believe EGD surveillance is warranted in all patients with LS until more data is available.Table 1.: Clinical and Pathologic Findings on EGD Abbreviations: EGD = esophago-gastro-duodenoscopy; LGD = low grade dysplasia; HGD = high grade dysplasia; FGP = fundic gland polyp; GIM = gastric intestinal metaplasia.

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