PDF(Pubmed)
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.
摘要：
EGFR融合是非小细胞肺癌（NSCLC）中罕见的基因组事件，以前在肺腺癌中总共报道了9种类型：EGFR-RAD51，EGFR-PURB，EGFR-ANXA2，EGFR-ZNF713，EGFR-YAP1，USP42-EGFR，EGFR-SEPTIN14、EGFR-TNS3和EGFR-ZCCHC6。EGFR融合突变联合EGFR扩增在NSCLC中更为罕见。EGFR基因间区（IGR）融合突变尚未报道，因此，在肺腺癌中没有针对这种融合与EGFR扩增的研究.我们的简短研究提供了临床证据，吉非替尼和西妥昔单抗联合靶向治疗可导致EGFR-IGR融合和EGFR扩增患者的显着抗肿瘤反应。关键点：EGFR融合突变是罕见的，EGFR融合突变联合EGFR扩增在非小细胞肺癌(NSCLC)中更为罕见.就作者所知，以前没有关于EGFR基因间区域(IGR)融合和EGFR扩增共存的报道.这是首次报道EGFR-IGR融合和EGFR扩增的NSCLC患者，通过吉非替尼联合西妥昔单抗治疗获得了显着的抗肿瘤反应。
