Abstract
Simple SummaryPatients with Lynch syndrome are at increased risk of upper gastrointestinal cancer. Recommendations for upper gastrointestinal endoscopy screening vary widely with limited data supporting effectiveness. The aim of our study was to investigate yields of upper gastrointestinal endoscopy screening in a large multicentre cohort of 172 Lynch syndrome mutation carriers. In our study, upper gastrointestinal endoscopy surveillance detects frequent neoplastic lesions particularly after the age of 40 years. Ours results suggest that Lynch patients should be considered for upper gastrointestinal endoscopic and Helicobacter pylori screening.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.
Highlights
Lynch syndrome ( known as hereditary nonpolyposis colorectal cancer (HNPCC)syndrome) is an autosomal dominant syndrome involving germline mutations in genes that encode DNA mismatch repair (MMR) proteins [1]
We found that the prevalence of gastroduodenal precancerous and cancerous lesions was high, which increased after 40 years and with H. pylori infection, but not with a family history of gastric or duodenal cancer
The results of our study suggest that individuals with Lynch syndrome should be considered for upper gastrointestinal endoscopy (UGE) screening, including gastric biopsies in order to check for preneoplastic lesions and H. pylori infection
Summary
Lynch syndrome ( known as hereditary nonpolyposis colorectal cancer (HNPCC)syndrome) is an autosomal dominant syndrome involving germline mutations in genes that encode DNA mismatch repair (MMR) proteins [1]. Lynch syndrome have a 60% lifetime risk of endometrial cancer [4]. The cumulative lifetime risk of gastric cancer in Lynch syndrome (LS) is reported to be varying from 2% to 8% [2,5,6,7]. This risk is highest in older patients and those with the pathogenic MSH2 and MLH1 variants [7]. 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
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