SO11: Endoscopic surveillance of the upper gastrointestinal tract in Lynch syndrome patients

Hüneburg1,4, P. van Heteren1,4, S. Aretz2,4, D. Pantelis3,4, C. Strassburg1,4, J.Nattermann1,4.

1 – Department of Internal Medicine I, University Hospital Bonn. 2 – Institute of Human Genetics, University Hospital Bonn. 3 – Department of Surgery, University Hospital Bonn. 4 – Center for Hereditary Tumour Syndromes, University Hospital Bonn.

Aim

Besides increased risk for the development of colorectal cancer Lynch syndrome is also associated with an increased life-time risk for the development of gastric (up to 8%) and small bowel cancer (up to 12%), respectively. However, the diagnostic performance of esophagogastroduodenoscopy in surveillance of Lynch syndrome patients has not yet been studied and, thus, has been analyzed in the present study.

Method

Between 01/2006 and 02/2016 Lynch syndrome patients with a proven germline mutation in a mismatch repair gene were examined by esophagogastroduodenoscopy.

Results

A total of 140 patients with proven germline mutation (55 MLH1 (39%), 69 MSH2 (49%) and 16 MSH6 (12%)) were enrolled into our study. Mean age was 48 years (27-78 years). During endoscopic examination two gastric adenomas (1.4%) and one gastric cancer were found (0.8%). In one patient duodenal cancer as well as two adenomas were found. In addition, a duodenum-infiltrating pancreatic cancer was detected in one patient. Finally, 14 patients (10%) were found to display a helicobacter pylori infection.

Conclusion

Endoscopic surveillance of the upper gastrointestinal tract revealed pathologic findings in a relevant proportion of Lynch syndrome patients. Further prospective studies are needed.

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