摘要
目的比较Sanger测序法与ARMS-PCR法检测肺癌表皮生长因子受体(EGFR)基因突变的差异,评价两种基因突变检测方法用于目标人群的临床应用价值。方法收集2016年4-9月123例非小细胞肺癌(NSCLC)患者标本。用Sanger测序法与ARMS-PCR法检测EGFR基因第18～21号外显子基因突变,分析两种检测手段之间的方法学差异以及临床病理行为对基因突变的影响,随访并比较受检人群的生存状况。结果 Sanger测序法EGFR基因突变总检出率为36.6%(45/123),ARMS-PCR法基因突变总检出率为48.0%(59/123)。Sanger测序与ARMS-PCR两种方法在不同类型标本中的阳性率分别是手术标本:35.8%(19/53)与49.1%(26/53),穿刺标本:50.0%(11/22)与54.5%(12/22),纤维支气管镜标本:30.0%(3/10)与40.0%(4/10),胸水标本:31.6%(12/38)与44.7%(17/38)。EGFR基因突变多见于≤65岁(54.2%)、女性(61.0%)、非吸烟(60.6%)、腺癌(50.9%)人群。未接受靶向治疗组与接受靶向治疗的Sanger阳性患者组、ARMS-PCR阳性患者组的治疗效果差异均有统计学意义(X^2=4.797,P=0.029;X^2=7.270,P=0.007),Sanger组敏感突变患者与ARMS-PCR组敏感突变患者接受TKIs的疗效差异无统计学意义(X^2=0.141,P=0.708)。结论两种检测方法对NSCLC患者的靶向治疗决策均具有积极意义,但基于灵敏度更高、操作更简便的最优原则,ARMS-PCR法在临床实践中更具优势。
Objective To investigate the differences between Sanger sequencing and ARMS-PCR for the detection of the epidermal growth factor receptor(EGFR)gene mutations in lung cancer,and to evaluate the clinical application of the two methods for target populations.Methods A total of 123 specimens were obtained from non small cell lung cancer(NSCLC)patients during April and September in 2016.The mutations in exons 18,19,20 and 21 of EGFR were detected by both Sanger sequencing and ARMS-PCR.The methodological differences between the two methods and the influence of clinicopathological behavior on gene mutation were analyzed.The survival status of the subjects was followed up and compared.Results The total detection rate of Sanger sequencing method was 36.6%(45/123),and the total detection rate of ARMS-PCR mutation was 48.0%(59/123).The positive rates of Sanger sequencing and ARMS-PCR were 35.8%(19/53)and 49.1%(26/53)of operative specimens,50.0%(11/22)and 54.5%(12/22)of puncture specimens,30.0%(3/10)and 40.0%(4/10)of bronchofibroscopy specimens,31.6%(12/38)and 44.7%(17/38)of pleural effusion specimens,respectively.EGFR mutations were more common in young≤65 years old people(54.2%),female(61.0%),non-smoking(60.6%),adenocarcinoma(50.9%).There was a significant difference in the treatment effect between the untargeted treatment group and the targeted therapy(P<0.05).There was no statistical difference in the efficacy of targeted therapy between the Sanger group and the ARMS-PCR group that received targeted therapy(χ2=0.141,P=0.708).Conclusion Both of the two methods have positive significance for the targeted treatment decision of NSCLC patients,but ARMS-PCR has more advantages in clinical practice based on the principle of higher sensitivity and simpler operation.
作者
葛闯
易琳
唐万燕
吴明凤
杨薇
辇伟奇
GE Chuang;YI Lin;TANG Wanyan;WU Mingfeng;YANG Wei;NIAN Weiqi(Chongqing Key Laboratory of Translational Research for Cancer Metastasis and Individualized Treatment,Chongqing Cancer Hospital Affiliated to Chongqing University/Chongqing Cancer Research Institute/Chongqing Cancer Hospital,Chongqing 400030,China)
出处
《国际检验医学杂志》
CAS
2018年第21期2648-2653,共6页
International Journal of Laboratory Medicine
基金
重庆市科委社会事业与民生保障科技创新专项基金资助项目(cstc2016shmszx130042)
