Clinically actionable findings on surveillance EGD in asymptomatic patients with Lynch syndrome

Upper Gastrointestinal Cancer Surveillance in Lynch Syndrome

“…Unlike gastric and duodenal findings, there is a paucity of data about esophageal findings in patients with Lynch syndrome. A recent study of 323 individuals with Lynch syndrome undergoing EGD surveillance identified 6.5% with Barrett’s esophagus; of those with Barrett’s esophagus, 9.5% had dysplasia and 1 patient (0.3% of the overall cohort) had Barrett’s esophagus-related esophageal adenocarcinoma [ 31 ]. In this study, the relatively frequent finding of Barrett’s esophagus was twice the prevalence reported by the only other study of EGD surveillance in Lynch syndrome to report Barrett’s esophagus, in which of 217 patients, 7 (3.2%) were identified to have Barrett’s esophagus, with only 1 of these 7 patients having dysplasia (authors’ own unpublished data) [ 32 ].…”

“…Mismatch repair-deficient esophageal adenocarcinomas have also been identified in Lynch syndrome. A recent report identified a stage I esophageal adenocarcinoma in a 56-year old female MSH2 carrier with known Barrett’s esophagus who was undergoing endoscopic surveillance [ 31 , 36 ]. Additionally, two case reports including one of an 84-year old woman and the other a 35-year old man, both with MSH2 -associated Lynch syndrome, described esophageal adenocarcinoma, both lacking expression of MSH2 on immunohistochemistry (IHC) [ 37 , 38 ].…”

“…Gastric neoplasia has been reported in two additional series of UGI Lynch syndrome surveillance. In 323 asymptomatic patients undergoing EGD surveillance, two patients (0.6%), both with an MSH2 pathogenic variant, were found to have gastric cancer—one type 3 gastric neuroendocrine tumor and one gastric adenocarcinoma identified as a solitary ulcerated mass in the proximal stomach [ 31 ]. Notably, both gastric cancers were identified at an early stage.…”

“…In a 2020 study of 217 patients, 80% of detected cancers were stage I [ 32 ]. In a 2021 study of 323 patients, all gastric cancers were detected at early stage [ 31 ]. In another 2021 study of 1128 individuals, patients who were found to have gastric cancer while undergoing regular surveillance were diagnosed significantly more often in early-stage disease than those gastric cancers detected through work-up of symptoms (83% vs. 25%; p = 0.02) [ 46 ].…”

“…Finally, gastric neuroendocrine tumors in Lynch syndrome have not been consistently reported; however, a study of 323 patients with Lynch syndrome underdoing endoscopic surveillance did detect one, with loss of MSH2 protein expression [ 31 ]. As more UGI surveillance data are collected on Lynch syndrome, this may be an area of further study.…”