Upper Gastrointestinal Cancer Risk and Surveillance Outcomes in Li-Fraumeni Syndrome. (22nd December 2020)

• Record Type: Journal Article
• Authors: Katona, Bryson W.; Powers, Jacquelyn; McKenna, Danielle B.; Long, Jessica M.; Le, Anh N.; Hausler, Ryan; Zelley, Kristin; Jennings, Sarah; Domchek, Susan M.; Nathanson, Katherine L.; MacFarland, Suzanne P.; Maxwell, Kara N.
• Is Part Of: American journal of gastroenterology. Volume 115:Number 12(2020)
• Page Start: 2095
• Page End: 2097
• Publication Date: 2020-12-22
• Subjects: Stomach -- Diseases -- Periodicals; Intestines -- Diseases -- Periodicals; Gastroenterology -- Periodicals; Gastrointestinal Diseases -- Periodicals; Electronic journals; Periodicals; 616.33
• DOI: 10.14309/ajg.0000000000000935
• Languages: English
• ISSNs: 0002-9270

Abstract

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.