Department of Thoracic Surgery and Lung Transplantation, First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, People's Republic of China.
Department of Pathology, First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, People's Republic of China.
Oncologist. 2021 Nov;26(11):e1898-e1902. doi: 10.1002/onco.13921. Epub 2021 Aug 18.
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.
EGFR 融合是 NSCLC 中罕见的基因组事件，此前已在肺腺癌中报道了九种类型：EGFR-RAD51、EGFR-PURB、EGFR-ANXA2、EGFR-ZNF713、EGFR-YAP1、USP42-EGFR、EGFR-SEPTIN14、EGFR-TNS3 和 EGFR-ZCCHC6。EGFR 融合突变与 EGFR 扩增相结合在 NSCLC 中更为罕见。EGFR 基因间区（IGR）融合突变尚未报道，因此，针对肺腺癌中这种融合与 EGFR 扩增的靶向治疗研究尚无报道。我们的简要研究提供了临床证据，表明联合使用吉非替尼和西妥昔单抗进行靶向治疗可使 EGFR-IGR 融合和 EGFR 扩增的患者获得显著的抗肿瘤反应。关键要点：EGFR 融合突变罕见，EGFR 融合突变与 EGFR 扩增相结合在非小细胞肺癌（NSCLC）中更为罕见。据作者所知，以前没有关于 EGFR 基因间区（IGR）融合与 EGFR 扩增并存的报道。这是首例报告的 EGFR-IGR 融合和 EGFR 扩增的 NSCLC 患者，接受吉非替尼联合西妥昔单抗治疗后获得了显著的抗肿瘤反应。
