Non-Small Cell Lung Cancer 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 towards the EGFR deletion 19 population but did no...

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Bibliographic Details
Published in:JTO clinical and research reports 2023, p.100521-100521
Main Authors: Marks, Jennifer A., MD, Liu, Stephen V., MD
Format: Article
Language:English
Subjects:
Hematology, Oncology, and Palliative Medicine
Online Access:Get full text
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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 towards the EGFR deletion 19 population but did not garner response in the EGFR exon 20 insertion population which was treated definitively with surgical resection. At the time of oligo-progression, she underwent surgical resection, and radiation therapy was minimized. The biologic link between Li Fraumeni Syndrome and EGFR mutation remains unclear; using larger, real-world cohorts could help to clarify the relationship between Li Fraumeni Syndrome and EGFR-mutant non-small cell lung cancer.
ISSN:2666-3643
2666-3643
DOI:10.1016/j.jtocrr.2023.100521