NSCLC With Synchronous EGFR Mutations in Li Fraumeni Syndrome: A Case Report

We report a case of a patient with Li Fraumeni Syndrome (LFS) who developed synchronous EGFR exon deletion 19 and EGFR exon 20 insertion NSCLC and characterize the diagnostic and therapeutic challenges in managing her care. Osimertinib was effective in the EGFR deletion 19 population but did not gar...

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Bibliographic Details
Published in:JTO clinical and research reports 2023-06, Vol.4 (6), p.100521, Article 100521
Main Authors: Marks, Jennifer A., Liu, Stephen V.
Format: Article
Language:English
Subjects:
Case Report
EGFR mutations
Li Fraumeni Syndrome
NSCLC
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Summary:We report a case of a patient with Li Fraumeni Syndrome (LFS) who developed synchronous EGFR exon deletion 19 and EGFR exon 20 insertion NSCLC and characterize the diagnostic and therapeutic challenges in managing her care. Osimertinib was effective in the EGFR deletion 19 population but did not garner a response in the EGFR exon 20 insertion population, which was treated definitively with surgical resection. At the time of oligoprogression, she underwent surgical resection, and radiation therapy was minimized. The biologic link between LFS and EGFR mutation remains unclear, and using larger, real-world cohorts could help to clarify the relationship between LFS and EGFR-mutant NSCLC.
ISSN:2666-3643
2666-3643
DOI:10.1016/j.jtocrr.2023.100521