Key clinical point: The occurrence of gastric cancer is highest in patients with SMAD4-associated juvenile polyposis syndrome (JPS) and is not reported in those without identifiable pathogenic germline variants (PGV).
Major finding: Gastric cancer occurred in 10.1% (95% CI 3.2%-16.8%) of patients with SMAD4 PGV and in only 1 patient with BMPR1A PGV. It was not reported in patients without an identifiable PGV.
Study details: This was a meta-analysis of 11 retrospective studies including 637 patients with JPS, of which 272 had a SMAD4 PGV, 181 had a BMPR1A PGV, 106 had no identifiable PGV, and 78 had an unknown PGV status.
Disclosures: This study did not receive any specific funding. The authors declared no conflicts of interest.
Source: Singh AD et al. Occurrence of gastric cancer in patients with juvenile polyposis syndrome: A systematic review and meta-analysis. Gastrointest Endosc. 2022 (Oct 17). Doi: 10.1016/j.gie.2022.10.026