非小细胞肺癌ROS1突变与EGFR突变及临床病理特征的关系

目的探讨非小细胞肺癌(NSCLC)中ROS1融合突变与表皮生长因子受体(EGFR)突变及临床病理特征的关系。方法采用实时荧光定量PCR(QPCR)检测2014年12月至2017年12月收治的3487例中国西北地区NSCLC患者ROS1基因的突变情况,同时采用ARMS法检测ROS1基因突变患者的EGFR基因突变情况,分析ROS1和EGFR共突变患者的临床病理特征。结果 3487例NSCLC患者中,ROS1基因突变54例(1. 5%)。ROS1基因突变与年龄、性别、吸烟史、病理类型和临床分期有关(P<0. 05)。54例ROS1融合基因突变患者中有3例(5. 6%)同时存在EGFR基因突变,其中19外显子缺失突变(19-del) 2例,L858R突变1例。3例ROS1突变均为突变体2型(R2)。结论中国西北地区NSCLC患者ROS1融合基因突变率为1. 5%,与EGFR基因突变可以共存。

Relationship of ROS1 fusion gene mutation with EGFR mutation andclinicopathological features in non-small cell lung cancer

ObjectiveTo investigate the relationship between c-ros oncogene 1（ROS1） fusion gene mutationand epidermal growth factor receptor（EGFR） mutation and clinicopathologicalcharacteristics in non-small cell lung cancer（NSCLC）. Methods Real-time fluorescence quantitativePCR（QPCR） was performed toexamine gene rearrangement of ROS1 fusion gene in 3487 NSCLC patients ofNorthwest China from December 2014 to December 2017. EGFR mutation was detectedby ARMS method for patients with ROS1 fusion gene mutation. Theclinicopathological features of patients with double mutations were analyzed. ResultsAmong the 3487 patients， 54 patients（1.5%） occurred ROS1 fusion gene mutation. ROS1 fusiongene mutation was associated with age， gender， smoking history， pathological types and clinical stage （P＜0.05）. Three patients wereidentified with EGFR mutation from 54 patients who harboring ROS1 fusion genesmutation, including 2 cases of EGFR19 exon deletion mutation （19-del）， and 1 case of EGFRL858R mutations. The 3 double mutative cases were of ROS1 variant 2 （R2）. Conclusion ROS1fusion gene mutative rate of NSCLC patients in Northwest China is 1.5％. ROS1 fusion geneand EGFR mutations can coexist in NSCLC.