Identifying factors associated with detection of sessile gastric polyps in patients with familial adenomatous polyposis

Abstract

Background and study aims Gastric cancer (GC) is increasingly reported and a leading cause of death in patients with familial adenomatous polyposis (FAP). Identifying features in patients with FAP who harbor sessile gastric polyps, likely precursors to GC, may lead to alterations in endoscopic surveillance in those patients and allow endoscopic intervention to decrease the risk of GC. The aim of this study was to identify demographic and clinical factors in patients with FAP who harbor sessile gastric polyps. Patients and methods We retrospectively compared demographic, clinical, and endoscopic features in consecutive adult patients with FAP who presented for a surveillance endoscopy at a tertiary-care center with a FAP registry who harbor sessile gastric polyps to those without them. Sessile gastric polyps included pyloric gland adenomas, gastric adenomas, hyperplastic polyps, and fundic gland polyps with high-grade dysplasia. We also display the location of germline APC pathogenic variants in patients with and without sessile gastric polyps. Results Eighty patients with FAP were included. Their average age was 48 years and 70 % were male. Nineteen (24 %) had sessile gastric polyps. They were older (P < 0.03), more likely to have a family history of GC (P < 0.05), white mucosal patches in the proximal stomach (P < 0.001), and antral polyps (P < 0.026) compared to patients without a gastric neoplasm. No difference in Spigelman stage, extra-intestinal manifestations, or surgical history was note. 89 % of patients with a gastric neoplasm had an APC pathogenic variant 5’ to codon 1309. Conclusions Specific demographic, endoscopic, and genotypic features are associated with patients with FAP who harbor sessile gastric polyps. We recommend heightened awareness of these factors when performing endoscopic surveillance of the stomach with resection of gastric neoplasia when identified.

Molecular Pathways of Carcinogenesis in Familial Adenomatous Polyposis

“…Mutations in an area called “mutation cluster region”, located on exon 15, between codon 1285 and codon 1580, are associated with the most severe disease phenotype, with the presence, among others, of desmoid tumors, hepatoblastoma and papillary thyroid carcinoma [ 16 ]. Mankaney et al described in a retrospective study APC pathogenic variants in patients with and without upper gastrointestinal involvement affected by FAP; his group found an APC pathogenic variant to 5′ codon 1309 in 89% of patients with gastric cancer and sessile gastric polyps, with a cluster between codons 1061 and 1150 [ 17 ]. A milder form of the disease is present when APC mutations occur in the 3′ (codons 1581–2843) or 5′ region (codons 78–167) of the gene, called attenuated FAP (AFAP) [ 18 ].…”

Endoscopic Surveillance and Treatment of Upper GI Tract Lesions in Patients with Familial Adenomatous Polyposis—A New Perspective on an Old Disease

“…Prior to or concurrent with a gastric cancer diagnosis on endoscopic evaluation, endoscopic features such as carpeting of proximal gastric polyposis, densely concentrated polypoid mounds in the fundus and body of the stomach (1–2 years before cancer diagnosis), and mucosal patches are commonly seen, which make it difficult for surveillance of the stomach for neoplastic lesions [ 19 , 20 ]. Yang et al in their 2020 guidelines, American Society for Gastrointestinal Endoscopy guideline on the role of endoscopy in familial adenomatous polyposis syndromes, recommend 3- to 6-month surveillance EGD with aggressive polyp sampling and endoscopic debulking of large gastric polyposis mounds because more stage I cancers were found with this protocol.…”

“…In FAP patients, the focus has been on describing the duodenal lesions given their established cancer risk. However, the authors concluded that more care should be taken to carefully examine and describe gastric findings [ 19 ].…”