Abstract
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 language | English (US) |
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Article number | 100368 |
Journal | JTO Clinical and Research Reports |
Volume | 3 |
Issue number | 8 |
DOIs | |
State | Published - Aug 2022 |
Keywords
- Case report
- Epidermal growth factor receptor
- Genetics
- Inherited
- Lung cancer
ASJC Scopus subject areas
- Oncology
- Pulmonary and Respiratory Medicine