Upper endoscopy surveillance in Lynch syndrome detects gastric and duodenal adenocarcinomas

Shria Kumar 1, Christina M Dudzik 2, Mallory Reed 2, Jessica M Long 3, Kirk J Wangensteen 2, Bryson W Katona 4

Affiliations

PMID: 32859614
DOI: 10.1158/1940-6207.CAPR-20-0269

Abstract

Lynch syndrome (LS) is a prevalent hereditary cancer predisposition syndrome. While colorectal cancer is the most common gastrointestinal (GI) cancer in LS, there is also increased risk of gastric and small intestinal cancers. Recommendations for upper GI cancer surveillance in LS vary widely with limited data supporting effectiveness. Herein, we collected data on individuals with a diagnosis of Lynch syndrome seen at our tertiary care referral center. We identified individuals who underwent upper endoscopy and those with upper GI cancers, and associated demographics, genetic testing results, and endoscopic information. Standard statistical analyses were performed. Among 295 individuals with LS seen at our center, 217 (73.6%) underwent 660 total upper endoscopies. Of these 217, pre-cancerous upper endoscopy findings included Barrett's esophagus (7, 3.2%), gastric intestinal metaplasia (18, 8.3%), and duodenal adenomas (4, 1.8%), and Helicobacter pylori was identified in 6 (2.8%). Upper GI cancers were diagnosed in eleven individuals (3.7%), including esophageal in 1, gastric in 6, and duodenal in 4. Five (1.7%) of these upper GI cancers were identified on surveillance. Individuals with upper GI cancers identified on surveillance were older at first surveillance endoscopy, with median age 63.3 vs 44.9 years, P<0.001. Of the upper GI cancers detected on surveillance, 80% (4/5) occurred within 2 years of last upper endoscopy and 80% were stage I. In conclusion, upper endoscopy surveillance in LS identifies upper GI cancers. For individuals with LS who undergo upper GI surveillance, a short surveillance interval may be warranted.