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

Jennifer A Marks; Stephen V Liu

doi:10.1016/j.jtocrr.2023.100521

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

JTO Clin Res Rep. 2023 Apr 30;4(6):100521. doi: 10.1016/j.jtocrr.2023.100521. eCollection 2023 Jun.

Authors

Jennifer A Marks¹, Stephen V Liu¹

Affiliation

¹ Division of Hematology and Oncology, Georgetown University, Washington, District of Columbia.

Abstract

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.

Keywords: Case report; EGFR mutations; Li Fraumeni Syndrome; NSCLC.

Publication types

Case Reports