Abstract
EGFR fusions are rare genomic events in non-small cell lung cancer (NSCLC), and a total of nine types have been previously reported in lung adenocarcinoma: EGFR-RAD51, EGFR-PURB, EGFR-ANXA2, EGFR-ZNF713, EGFR-YAP1, USP42-EGFR, EGFR-SEPTIN14, EGFR-TNS3, and EGFR-ZCCHC6. EGFR fusion mutations combined with EGFR amplification are even rarer in NSCLC. The EGFR-intergenic region (IGR) fusion mutation is unreported, and thus, there are no studies targeting this fusion together with EGFR amplification in lung adenocarcinoma. Our brief study provides clinical evidence that combined targeted therapy with gefitinib and cetuximab could result in a significant antitumor response in patients with the EGFR-IGR fusion and EGFR amplification. KEY POINTS: EGFR fusion mutations are rare, and EGFR fusion mutations combined with EGFR amplification are even rarer in non-small cell lung cancer (NSCLC). To the authors' knowledge, there is no previous report on the coexistence of the EGFR-intergenic region (IGR) fusion and EGFR amplification. This is the first report of a patient with NSCLC with the EGFR-IGR fusion and EGFR amplification who achieved a significant antitumor response from treatment with gefitinib combined with cetuximab.