Sun Mengyao, Guo Ye, Shao Guoguang, Duan Xiumei, Yang Zhiguang, Zhang Peng, Liu Yunpeng, Dong Yutong, Wang Xu, Xu Yinghui, Sun Chao, Ma Kewei
Department of Cancer Centre, First Hospital of Jilin University, Changchun 130021, China.
Department of Thoracic Surgery, First Hospital of Jilin University, Changchun 130021, China.
Transl Cancer Res. 2019 Nov;8(7):2581-2592. doi: 10.21037/tcr.2019.10.28.
The aim of this study was to analyse the epidemiological characteristics and clinical features of the three driver genes , and in Chinese patients with non-small-cell lung cancer (NSCLC).
mutations, fusions and 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.
A total of 3,081 patients with pathologically confirmed NSCLC from five sites in China were enrolled, among whom 1,449 (47.03%) had , and/or alterations. In adenocarcinoma, the alteration rates of , and were 50.6% (1,193/2,360), 6.3% (148/2,360), and 1.6% (38/2,360), respectively. and - coexisted in 16 cases (0.5%), while and coexisted in 1 case (0.03%). Sex, smoking status, and tumour stage were significantly correlated with the mutation; age and smoking status were correlated with -; and age and tumour stage were correlated with . In squamous cancer, the alteration rates of , and were 7% (34/488), 2.9% (14/488) and 0% (0/488), respectively. Sex and smoking history were associated with , and sex was the only independent predictor of . The gene mutation sites were mainly 19del (557/1,263; 44.1%) and 21 exon L858R (575/1,263; 45.5%). More uncommon mutation types were present in 10.4% (131/1,263) of patients. Patients with , , and/or alterations had different epidemiological characteristics and clinical features.
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.
本研究旨在分析中国非小细胞肺癌（NSCLC）患者中三种驱动基因 、 和 的流行病学特征及临床特征。
采用定量实时聚合酶链反应（PCR）同时检测 突变、 融合及 重排。对腺癌和鳞癌进行亚组分析。采用卡方检验和多因素逻辑回归分析来分析基因改变与临床特征之间的关联。
共纳入来自中国五个地区的3081例经病理确诊的NSCLC患者，其中1449例（47.03%）存在 、 和/或 改变。在腺癌中， 、 和 的改变率分别为50.6%（1193/2360）、6.3%（148/2360）和1.6%（38/2360）。 与 共存在16例（0.5%）， 与 共存在1例（0.03%）。性别、吸烟状态和肿瘤分期与 突变显著相关；年龄和吸烟状态与 相关；年龄和肿瘤分期与 相关。在鳞癌中， 、 和 的改变率分别为7%（34/488）、2.9%（14/488）和0%（0/488）。性别和吸烟史与 相关，性别是 的唯一独立预测因素。 基因突变位点主要为19号外显子缺失（19del，557/1263；44.1%）和21号外显子L858R（575/1263；45.5%）。10.4%（131/1263）的患者存在更罕见的 突变类型。存在 、 和/或 改变的患者具有不同的流行病学特征和临床特征。
这项针对中国大量人群驱动基因改变的真实世界研究揭示了中国NSCLC患者独特的流行病学特征和临床特征。
