Upper Gastrointestinal Cancer Risk and Surveillance Outcomes in Li-Fraumeni Syndrome.
By: Bryson W Katona, Jacquelyn Powers, Danielle B McKenna, Jessica M Long, Anh N Le, Ryan Hausler, Kristin Zelley, Sarah Jennings, Susan M Domchek, Katherine L Nathanson, Suzanne P MacFarland, Kara N Maxwell
Division of Gastroenterology and Hepatology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
2020-9-25; doi: 10.14309/ajg.0000000000000935
2020-9-25; doi: 10.14309/ajg.0000000000000935
Abstract
Introduction
To assess the upper gastrointestinal (UGI) cancer risk and surveillance outcomes in Li-Fraumeni syndrome (LFS).
Methods
Analysis of the International Agency for Research on Cancer database and a single-center adult LFS cohort.
Results
UGI cancer was present in 7.2% of families and 3.9% of individuals with a pathogenic/likely pathogenic TP53 mutation in International Agency for Research on Cancer; 29% occurred before age 30. Our institutional cohort had 35 individuals (31% of the LFS cohort) with 48 cumulative upper endoscopies; 3 (8.5%) individuals had concerning UGI findings.
Discussion
UGI cancer is observed in LFS. Upper endoscopy should be part of a comprehensive LFS surveillance program.
PMID:32969947
