Upper GI tract screening in Lynch syndrome

Abstract

We appreciated the recent study by Farha et al 1 reporting the high rate of actionable findings on EGD in their large series of patients with Lynch syndrome. This is an important addition to the literature that highlights the real-world benefit of screening upper endoscopy in Lynch syndrome.We believe that the use of push enteroscopy as the screening modality would further increase the benefit of these procedures, especially because the majority of small-bowel cancers occur in the duodenum and jejunum in Lynch syndrome. 2,3 This was previously endorsed in guidelines, including those by the Mallorca Group recommending "inspection of the distal duodenum during upper gastrointestinal endoscopy" 4 and the National Comprehensive Cancer Network advocating "EGD with extended duodenoscopy to distal duodenum or into the jejunum," 5 but it has fallen out of the recommendations.To assess the incidence of neoplasia identified during screening with push enteroscopy in Lynch syndrome, we performed a retrospective analysis after approval by our institutional review board. According to our clinical protocol, push enteroscopy with use of a pediatric colonoscope was the standard for upper GI tract screening during the study period. The inclusion criteria included a pathogenic or likely pathogenic variant in a mismatch repair gene and at least 1 enteroscopy performed for screening. The exclusion criteria included multiple hereditary cancer syndromes or previous small-bowel neoplasia.We assessed 172 enteroscopies performed in 129 patients with Lynch syndrome (mean 1.3 per patient, range 1-3). Distal duodenal or jejunal adenomatous polyps were identified in 2 procedures (1.2%). Notably, these polyps were found on initial screening enteroscopy in patients who had received previous EGD within 3 years. Other neoplasia identified that would have been within reach of an EGD included 1 duodenal bulb adenocarcinoma (0.6%) and 1 gastric cancer (0.6%). No procedural adverse events were noted.In our experience, push enteroscopy has identified distal duodenal and proximal jejunal neoplastic lesions that would not have been identified with standard EGD screening and at a rate similar to gastric and proximal duodenal neoplasia. Given this, we favor the use of push enteroscopy in Lynch syndrome.

The Approach to Performance of Quality Upper Endoscopy in Lynch Syndrome (QUELS)

“…The benefit of push endoscopy over EGD has not been studied widely, although it has been suggested to be of utility to detect jejunal adenomas/adenocarcinomas in LS. 18 Mucosal visualization is optimized by air insufflation and deflation and mucosal cleansing with simethicone or other mucolytic agents as needed. Complete photodocumentation includes images of the upper esophagus, gastroesophageal junction, cardia (retroflexed view), fundus, body, incisura, antrum, pylorus, duodenal bulb, and the second and third part of the duodenum (Figure 1).…”

“…A complete examination includes visualization of all relevant anatomic landmarks and extends to at least the third portion of the duodenum. The benefit of push endoscopy over EGD has not been studied widely, although it has been suggested to be of utility to detect jejunal adenomas/adenocarcinomas in LS 18…”

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

“…Push enteroscopy may also be considered instead of standard upper endoscopy to improve the extent of small bowel visualization, however more study is needed addressing the yield in Lynch syndrome. 35 , 49 , 56 Future research in upper GI surveillance in Lynch syndrome needs to focus on whether upper GI surveillance leads to a survival benefit and is cost-effective, as well as understanding the mechanism of Lynch syndrome-associated gastric carcinogenesis.…”