Original Article


Analysis of real-word mutations of lung cancer driver genes in five regions of China

Mengyao Sun, Ye Guo, Guoguang Shao, Xiumei Duan, Zhiguang Yang, Peng Zhang, Yunpeng Liu, Yutong Dong, Xu Wang, Yinghui Xu, Chao Sun, Kewei Ma

Abstract

Background: The aim of this study was to analyse the epidemiological characteristics and clinical features of the three driver genes EGFR, ALK and ROS1 in Chinese patients with non-small-cell lung cancer (NSCLC).
Methods: EGFR mutations, ALK fusions and ROS1 rearrangements were detected simultaneously by quantitative real-time PCR. Subgroup analyses were performed for adenocarcinoma and squamous cancer. The Chi-square test and multivariate logistic regressive analysis were used to analyse the associations between gene alterations and clinical features.
Results: A total of 3,081 patients with pathologically confirmed NSCLC from five sites in China were enrolled, among whom 1,449 (47.03%) had EGFR, ALK and/or ROS1 alterations. In adenocarcinoma, the alteration rates of EGFR, ALK and ROS1 were 50.6% (1,193/2,360), 6.3% (148/2,360), and 1.6% (38/2,360), respectively. EGFR and EML4-ALK coexisted in 16 cases (0.5%), while EGFR and ROS1 coexisted in 1 case (0.03%). Sex, smoking status, and tumour stage were significantly correlated with the EGFR mutation; age and smoking status were correlated with EML4-ALK; and age and tumour stage were correlated with ROS1. In squamous cancer, the alteration rates of EGFR, ALK and ROS1 were 7% (34/488), 2.9% (14/488) and 0% (0/488), respectively. Sex and smoking history were associated with EGFR, and sex was the only independent predictor of EGFR. The EGFR gene mutation sites were mainly 19del (557/1,263; 44.1%) and 21 exon L858R (575/1,263; 45.5%). More uncommon EGFR mutation types were present in 10.4% (131/1,263) of patients. Patients with EGFR, ALK, and/or ROS1 alterations had different epidemiological characteristics and clinical features.
Conclusions: This real-word study of alterations in driver genes in a large population in China revealed unique epidemiological characteristics and clinical features in Chinese patients with NSCLC.

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