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

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

doi:10.3389/fonc.2024.1347282

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

Front Oncol. 2024 Mar 25:14:1347282. doi: 10.3389/fonc.2024.1347282. eCollection 2024.

Authors

Zhulin Wang^{1

2}, Chunyao Huang², Wenbo Fan², Shaowu Sun², Kaiyuan Li², Xu Liu², Jiangtao Pu¹, Guoqing Zhang², Xiangnan Li²

Affiliations

¹ Department of Thoracic Surgery, Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, China.
² Department of Thoracic Surgery, First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.

Abstract

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

Keywords: EGFR amplification; EGFR fusion; lung adenocarcinoma; rare mutations; targeted therapy.

Publication types

Case Reports

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This work was supported by the National Natural Science Foundation of China (32070623) and the Henan Province Engineering Research Center of Molecular Pathology and Clinical Experiments on Thoracic Diseases.