Upper Gastrointestinal Cancer Risk and Surveillance Outcomes in Li-Fraumeni Syndrome

Am J Gastroenterol. 2020 Dec;115(12):2095-2097. 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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Esophageal Neoplasms / etiology*
  • Esophageal Neoplasms / genetics
  • Female
  • Genetic Predisposition to Disease
  • Germ-Line Mutation*
  • Humans
  • Li-Fraumeni Syndrome / complications*
  • Li-Fraumeni Syndrome / genetics
  • Male
  • Middle Aged
  • Risk Factors
  • Stomach Neoplasms / etiology*
  • Stomach Neoplasms / genetics
  • Tumor Suppressor Protein p53 / genetics*
  • Young Adult

Substances

  • TP53 protein, human
  • Tumor Suppressor Protein p53