二代测序技术检测新疆地区NSCLC患者基因类型及临床意义  

Detection of Gene Types and Clinical Significance of NSCLC Patients in Xinjiang by Next-generation Sequencing Technology

作　　者：顾国民[1] 朱晓丹 朱红革[1] 刘春玲[1] GU Guo-min;ZHU Xiao-dan;ZHU Hong-ge;LIU Chun-ling(Department of Pulmonary Medicine,Ward 2,Affiliated Tumor Hospital of Xinjiang Medical University,Urumqi 830011,China)

机构地区：[1]新疆医科大学附属肿瘤医院肺内科二病区,新疆乌鲁木齐830011

出　　处：《医学信息》2020年第15期85-88,共4页Journal of Medical Information

基　　金：新疆医科大学科研创新基金(编号:XYDCX201553)。

摘　　要：目的探讨新疆地区的非小细胞肺癌(NSCLC)患者的驱动基因类型,同时通过案例分析和评估二代测序应用在靶向治疗的价值,为临床工作提供理论依据。方法选取2015年9月~2017年8月在新疆医科大学附属肿瘤医院肺内科二病区诊治的NSCLC患者43例,使用二代测序技术选取与肺癌密切相关的40个基因的全部外显子区域的40基因panel,对纳入本研究的患者的外周血样本进行高通量测序。结果对本研究3例NSCLC患者外周血样本通过高通量测序发现突变位点为52个,其中有9例患者存在双突变或多个突变位点。EGFR的突变率为40%;EGFR 19 DEL为23.2%;EGFR L858R突变率为7%;EGFR T790M突变率为11.6%;EGFR的少见突变率为7%,18例患者中存在5例双突变。ALK融合突变率为2%,ROS1融合突变率为2%,HER突变率为4%,DNMT3A的突变率为4%,其余基因突变率为2%。对患者的外周血样本进行NGS测序,本研究中筛选出3例NGS检测阳性后服用靶向药物的患者,服用相应靶向药物后,肿瘤病灶均有明显缩小,患者身体状态均有改善。结论新疆地区的非小细胞肺癌患者的基因分型和东亚基因分型类似,二代测序液体活检有助于指导临床靶向治疗提供参考。Objective To discuss the driver gene types of non-small cell lung cancer(NSCLC)patients in Xinjiang,and at the same time analyze and evaluate the value of next-generation sequencing in targeted therapy through case analysis and provide theoretical basis for clinical work.Methods A total of 43 patients with NSCLC who were diagnosed and treated in the second ward of the Department of Pulmonary Medicine,the Affiliated Tumor Hospital of Xinjiang Medical University from September 2015 to August 2017,were selected using next-generation sequencing technology to select all exon regions of 40 genes closely related to lung cancer the 40-gene panel for high-throughput sequencing of the peripheral blood samples of patients included in this study.Results High-throughput sequencing of the peripheral blood samples of 3 NSCLC patients in this study found 52 mutation sites,of which 9 patients had double mutations or multiple mutation sites.The mutation rate of EGFR was 40%;the mutation rate of EGFR 19 DEL was 23.2%;the mutation rate of EGFR L858R was 7%;the mutation rate of EGFR T790M was 11.6%;the rare mutation rate of EGFR was 7%.There were 5 double mutations in 18 patients.The ALK fusion mutation rate was 2%,the ROS1 fusion mutation rate was 2%,the HER mutation rate was 4%,the mutation rate of DNMT3A was 4%,and the mutation rate of other genes was 2%.NGS sequencing was performed on the peripheral blood samples of the patients.In this study,3 patients who took targeted drugs after NGS testing were screened out.After taking the corresponding targeted drugs,the tumor lesions were significantly reduced and the patient's physical condition was improved.Conclusion The genotyping of patients with non-small cell lung cancer in Xinjiang is similar to that of East Asia.The next-generation sequencing liquid biopsy can help guide clinical targeted therapy and provide a reference.

关 键 词：非小细胞肺癌 基因分型 EGFR ALK ROS1 

分 类 号：R743.2[医药卫生—神经病学与精神病学]