AUTHOR=Wang Zhulin , Huang Chunyao , Fan Wenbo , Sun Shaowu , Li Kaiyuan , Liu Xu , Pu Jiangtao , Zhang Guoqing , Li Xiangnan 

TITLE=Case report: EGFR fusion mutation combined with EGFR amplification responds to EGFR-TKI therapy

JOURNAL=Frontiers in Oncology

VOLUME=14

YEAR=2024

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2024.1347282

DOI=10.3389/fonc.2024.1347282

ISSN=2234-943X

ABSTRACT=<p>Given their good antitumor effects, epidermal growth factor receptor (<italic>EGFR</italic>) tyrosine kinase inhibitors (TKIs) are standard first-line therapy for <italic>EGFR</italic>-sensitive mutations, including exon 19 deletions and exon 21 L858R mutations. <italic>EGFR</italic> fusion mutations and <italic>EGFR</italic> amplification are very rare in non-small cell lung cancer (NSCLC). We describe 2 patients with NSCLC harboring <italic>EGFR</italic> fusion mutations (<italic>EGFR-MACF1</italic> and <italic>EGFR-GNAT3</italic>) combined with <italic>EGFR</italic> amplification. Both patients received EGFR-TKI treatment, and 1 of them showed an antitumor response.</p>