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

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.