EFGR-mutant lung adenocarcinoma and Li-Fraumeni syndrome: report of two cases and review of the literature

Lung Cancer. 2015 Jan;87(1):80-4. doi: 10.1016/j.lungcan.2014.11.005. Epub 2014 Nov 20.

Abstract

We report two cases of non-smoker patients diagnosed with EGFR-mutated lung adenocarcinoma and bearing germinal TP53 gene mutation, also known as Li-Fraumeni syndrome (LFS). We describe for the first time an EGFR-TKI resistance mutation in this population. Finally, we provide an analysis of discerning epidemiological data obtained from the IARC database and from all the published cases of EGFR-mutated lung cancer in TP53 germline mutation carriers.

Keywords: Epidermal growth factor receptor; Genetic predisposition to cancer; Li-Fraumeni syndrome; Molecular biology; Non-small cell lung cancer; Tyrosine kinase inhibitor.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adenocarcinoma / complications
  • Adenocarcinoma / diagnosis
  • Adenocarcinoma / genetics*
  • Adenocarcinoma of Lung
  • ErbB Receptors / genetics*
  • Exons
  • Female
  • Genes, p53
  • Germ-Line Mutation
  • Heterozygote
  • Humans
  • Li-Fraumeni Syndrome / complications
  • Li-Fraumeni Syndrome / diagnosis
  • Li-Fraumeni Syndrome / genetics*
  • Lung Neoplasms / complications
  • Lung Neoplasms / diagnosis
  • Lung Neoplasms / genetics*
  • Male
  • Middle Aged
  • Mutation*

Substances

  • ErbB Receptors