Distinct NSCLC EGFR Variants in a Family With Li-Fraumeni Syndrome: Case Report

Shelby Edmondson, Mitchell S. von Itzstein, Brian Reys, Melissa Mayer, Jeffrey Gagan, David E. Gerber

Research output: Contribution to journalArticlepeer-review


Introduction: Heritable lung cancer may occur in the context of germline TP53 mutations (Li-Fraumeni syndrome). Limited cases of intrafamily tumor genomic characteristics have been reported. Main concerns, Important Clinical Findings, Primary Diagnoses, Interventions, Outcomes: A 40-year-old woman with no smoking history or known environmental exposure risk was incidentally found to have stage II (T2N1) NSCLC harboring an EGFR exon 19 p.Glu746_Ala750 deletion. Family history was notable for an identical twin sister with colorectal cancer (diagnosed at age 31 y) and a mother with stage I NSCLC harboring an EGFR exon 21 c.2573T>G (p.Leu858Arg) mutation (diagnosed at age 69 y). Genetic testing revealed a germline TP53 c.542G>A (p.Arg181His) mutation in the patient, her mother, and her sister, consistent with Li-Fraumeni syndrome. No germline EGFR mutations were detected. Conclusion: Shared germline TP53 mutations may be associated with distinct NSCLC somatic EGFR mutations within families with Li-Fraumeni syndrome. Further understanding of the association between genetic cancer syndromes and lung cancer risk may improve early lung cancer detection in populations not otherwise meeting screening eligibility.

Original languageEnglish (US)
Article number100368
JournalJTO Clinical and Research Reports
Issue number8
StatePublished - Aug 2022


  • Case report
  • Epidermal growth factor receptor
  • Genetics
  • Inherited
  • Lung cancer

ASJC Scopus subject areas

  • Oncology
  • Pulmonary and Respiratory Medicine


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