ARMS与NGS对比检测NSCLC患者标本EGFR、KRAS、BRAF、EML4-ALK融合等基因探索

发布时间：2018-06-27 05:03

本文选题：基因突变 + 非小细胞肺癌　；参考：《安徽医科大学学报》2017年10期

【摘要】：目的探讨突变扩增阻滞系统(ARMS)法和下一代测序(NGS)法检测非小细胞肺癌(NSCLC)患者标本多驱动基因改变上的差异,指导临床个体化治疗。方法51例NSCLC患者标本首先采用ARMS法,对所有样本进行表皮生长因子受体(EGFR)、鼠类肉瘤病毒癌基因(KRAS)、鼠类肉瘤滤过性毒菌致癌基因同源体B1(BRAF)、棘皮动物微管相关类蛋白4-间变性淋巴瘤激酶(EML4-ALK)等基因检测,随后采用NGS对上述标本进行高通量检测对比,收集临床资料,定期随访。结果51例NSCLC样本应用ARMS法与NGS检测EGFR、KRAS、EML4-ALK突变阳性率(48.9%vs53.3%、11.1%vs 8.9%、13.7%vs 5.9%)差异无统计学意义。两种方法检测出的EGFR-19del突变组比EGFR-L858R突变组靶向治疗生存期较长,差异有统计学意义(P=0.010),但两组在性别、年龄、靶向治疗阶段等方面差异无统计学意义。NGS法检测出EGFR-19del、L858R突变患者肿瘤特有基因平均数量分别为7.1、4.6个,EGFR-L858R多为抑癌基因突变(91%)。2例EGFR/KRAS双突变患者较EG-FR单突变患者预后差。结论ARMS法和NGS均适用于NSCLC患者突变驱动基因检测。对于DNA点突变检测,NGS不仅显示ARMS检测的遗漏,还显示突变丰度、伴随突变及非常规突变等,对ARMS检测有补充作用。EGFR-19del患者靶向治疗生存期比EGFR-L858R突变患者长,EGFR-L858R主要为抑癌基因突变。EGFR合并KRAS双突变患者预后较差,但仍需进一步研究证实。
[Abstract]:Objective to investigate the difference between mutational amplification block system (ARMS) and next generation sequencing (NGS) in the detection of multi-drive gene changes in patients with non-small cell lung cancer (NSCLC). Methods 51 patients with NSCLC were studied by ARMS. Epidermal growth factor receptor (EGFR), rodent sarcomavirus oncogene (KRAS), murine sarcoma filtering toxoid oncogene B1 (BRAF) and echinodermatous microtubule-associated protein 4-anaplastic lymphoma kinase (EML4-ALK) were detected in all samples. Then NGS was used to carry out high-throughput detection and contrast to collect clinical data and follow-up regularly. Results there was no significant difference between ARMS and NGS in detecting EML4-ALK mutation in 51 NSCLC samples (48.9 vs 11.1 vs 8.9% vs 5.9%). The survival time of targeted therapy in EGFR-19del mutation group was longer than that in EGFR-L858R mutation group (P < 0.010). There was no significant difference in target therapy stage. NGS method showed that the average number of tumor specific genes in EGFR-19dellL858R mutation patients was 7.1, and 4.6 EGFR-L858R mutations were tumor suppressor gene mutations (91%). The prognosis of EGFR-L858R mutation patients with EGFR / KRAS double mutation was worse than that of EG-FR single mutation patients. Conclusion both ARMS and NGS can be used to detect mutation driving genes in NSCLC patients. For DNA point mutation detection, NGS not only shows omissions in ARMS detection, but also shows mutation abundance, accompanied mutation and unconventional mutation, etc. The survival time of targeted therapy in patients with EGFR-19del mutation was significantly lower than that in patients with EGFR-L858R mutation. The prognosis of patients with EGFR-L858R mutation was lower than that of patients with EGFR-L858R mutation.
【作者单位】：安徽医科大学附属省立医院呼吸内科;
【基金】：安徽省卫生厅医学科研课题计划项目(编号:13zc001) 安徽省科技攻关计划项目(编号:1301042216)
【分类号】：R734.2

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