Upper Endoscopic Surveillance in Lynch Syndrome Detects Gastric and Duodenal Adenocarcinomas

Abstract

Lynch syndrome is a prevalent hereditary cancer predisposition syndrome. While colorectal cancer is the most common gastrointestinal (GI) cancer in Lynch syndrome, there is also increased risk of gastric and small intestinal cancers. Recommendations for upper GI cancer surveillance in Lynch syndrome 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 Lynch syndrome seen at our center, 217 (73.6%) underwent 660 total upper endoscopies. Of these 217, precancerous 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 11 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 versus 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 Lynch syndrome identifies upper GI cancers. For individuals with Lynch syndrome who undergo upper GI surveillance, a short surveillance interval may be warranted.

Upper Gastrointestinal Lesions during Endoscopy Surveillance in Patients with Lynch Syndrome: A Multicentre Cohort Study

“…Another small, retrospective, single-institution study of 66 LS carriers (21 of whom underwent EGD surveillance) found that 19% of the screened individuals had potential precursor findings on UGE ( H. pylori , intestinal metaplasia) [ 24 ]. Our results are contrary to a more recent single-institution cohort of 217 LS carriers whom underwent UGE surveillance, where the prevalence of gastric intestinal metaplasia was low (8.3%) [ 26 ]. The prevalence of H. pylori infection was 28% in our cohort, which is consistent with the usual prevalence in Europe (around 30%) [ 33 ].…”

“…However, there is no consensus about the appropriate screening for upper gastrointestinal cancer in Lynch syndrome ( Table 1 ). Guidelines are all based on imprecise or small-sized epidemiological studies, due to the lack of UGE surveillance studies [ 24 , 25 , 26 ]. Nevertheless, Capelle et al have reported that, in a large Dutch cohort of individuals with Lynch syndrome, gastric cancer cases were mostly diagnosed after 45 years and that a family history of gastric cancer was a poor prognosticator of an increase in individual risk [ 5 ].…”

“…The goal of UGE is to detect precancerous lesions at an early curable stage and to detect H. pylori infection. Only few studies have evaluated the prevalence of H. pylori infection and the effectiveness of surveillance for gastric cancer in individuals with Lynch syndrome [ 23 , 24 , 25 , 26 , 27 ]. Therefore, the utility and optimal modalities for screening for gastric and duodenal cancers in individuals with Lynch syndrome remain undefined.…”

Upper gastrointestinal cancers in Lynch syndrome: the time for surveillance is now

“…Surveillance intervals also remain controversial. Recent data supports short surveillance intervals, with the majority of LS-related UGI cancers being detected within 2 years of a prior surveillance upper endoscopy [ 9 , 11 ]. In the setting of a shorter surveillance interval, we believe that UGI surveillance procedures should always be performed concurrently with a lower GI surveillance procedure, to minimize procedural burden.…”

“…We recently described our outcomes from UGI surveillance in LS. [ 9 ] Among 295 with LS, 217 (73.6%) underwent at least 1 upper endoscopy, with 11 (3.7%) patients being diagnosed with an UGI cancer: one esophageal squamous cell carcinoma, six gastric adenocarcinomas, and four duodenal adenocarcinomas. Among the 11 persons who developed an UGI cancer, 5 of these cancers were detected during surveillance, while the remainder were discovered during work-up of symptoms.…”