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

Abstract

Background: Patients with Lynch syndrome are at increased risk of gastric and duodenal cancer. Upper gastrointestinal endoscopy surveillance is generally proposed, even though little data are available on upper gastrointestinal endoscopy in these patients. The aim of this retrospective study was to evaluate the prevalence and incidence of gastrointestinal lesions following upper gastrointestinal endoscopy examination in Lynch patients. Methods: A large, multicentre cohort of 172 patients with a proven germline mutation in one of the mismatch repair genes and at least one documented upper gastrointestinal endoscopy screening was assessed. Detailed information was collected on upper gastrointestinal endoscopy findings and the outcome of endoscopic follow-up. Results: Seventy neoplastic gastrointestinal lesions were diagnosed in 45 patients (26%) out of the 172 patients included. The median age at diagnosis of upper gastrointestinal lesions was 54 years. The prevalence of cancer at initial upper gastrointestinal endoscopy was 5% and the prevalence of precancerous lesions was 12%. Upper gastrointestinal lesions were more frequent after 40 years of age (p < 0.001). Helicobacter pylori infection was associated with an increased prevalence of gastric, but not duodenal, lesions (p < 0.001). Conclusions: Neoplastic upper gastrointestinal lesions are frequent in patients with Lynch syndrome, especially in those over 40 years of age. The results of our study suggest that Lynch patients should be considered for upper gastrointestinal endoscopic and Helicobacter pylori screening.

Upper Gastrointestinal Cancer Surveillance in Lynch Syndrome

“…Multiple guidelines recommend surveillance based on patient-specific risk factors. While risk factors for Lynch syndrome-related gastric cancers have been identified and include male sex, increasing age, and family history of gastric cancer [ 44 ], gastric cancer has also been diagnosed among patients without these risk factors [ 32 , 45 , 46 , 47 ]. Furthermore, guidelines are not consistent in their definition of who is considered a high-risk individual.…”

“…Other studies, including one from the Dutch Hereditary Cancer Registry, found that Helicobacter pylori was not associated with increased gastric cancer risk in Lynch syndrome [ 49 , 55 ]. A French study also found no association between preceding histologic abnormalities and future gastric cancer risk [ 47 ]. Despite this, all published guidelines routinely recommend testing for and eradicating Helicobacter pylori infection—though they do not uniformly recommend biopsies for histological evaluation [ 15 , 16 , 18 , 19 , 56 ].…”

Endoscopic Surveillance in Patients with the Highest Risk of Gastric Cancer: Challenges and Solutions

“… 50 Another study of a multi-center, French cohort included 172 individuals with Lynch syndrome having diagnostic or surveillance upper endoscopy; 3% were diagnosed with gastric adenocarcinoma, and 20% with normal findings on initial upper endoscopy later developed precancerous findings on follow-up exams. 53 An additional recent study of 323 asymptomatic individuals with Lynch syndrome with 717 total surveillance upper endoscopies performed, reported 1.5% with an upper GI cancer including one gastric adenocarcinoma and one gastric neuroendocrine tumor, and 17.6% with clinically actionable findings. 54 Finally, in a large German cohort of 1128 individuals with Lynch syndrome undergoing upper GI endoscopies, the gastric cancers identified via surveillance were significantly more likely to be stage I (83%), compared to symptomatic gastric cancers detected outside of surveillance (25% were stage I).…”