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

Genes (Basel). 2022 Dec 10;13(12):2329. doi: 10.3390/genes13122329.


Familial adenomatous polyposis (FAP) is an autosomal dominant disease caused by a germline mutation in the adenomatous polyposis coli (APC) gene. Patients with FAP develop up to thousands of colorectal adenomas as well as lesions in the upper GI tract. In FAP, the upper digestive lesions include gastric fundic gland polyps (FGPs), antrum adenomas, duodenal or small intestinal adenomas, and carcinoma. Patients, after colectomy, are still at significant risk for extracolonic malignancies. Advances in endoscope resolution and optical enhancement technologies allow endoscopists to provide assessments of benign and malignant polyps. For this reason, in the past decades, endoscopic resection techniques have become the first line of treatment in patients with polyps in the upper GI, whereby polyps and even early cancers can be successfully cured. In FAP patients, endoscopic ampullectomy appears to be a safe and effective way of treating patients with ampullary tumors. According to current indications, endoscopic retrograde cholangiopancreatography (ERCP) and stenting of the main pancreatic duct follow ampullectomy.

Keywords: endoscopic ampullectomy; familial adenomatous polyposis (FAP); germline mutation; polypectomy.

Publication types

  • Review

MeSH terms

  • Adenoma* / genetics
  • Adenomatous Polyposis Coli* / genetics
  • Adenomatous Polyposis Coli* / pathology
  • Adenomatous Polyposis Coli* / surgery
  • Genes, APC
  • Humans
  • Polyps* / genetics
  • Polyps* / pathology
  • Upper Gastrointestinal Tract* / pathology

Grants and funding

This research received no external funding.