非小细胞肺癌基因检测的临床意义

Clinical significance of genetic testing in non-small cell lung cancer

近年来,分子靶向治疗已经成为肺癌研究热点,越来越多分子靶点的发现及靶向药物的研发给肺癌患者长期生存带来了希望。表皮生长因子受体酪氨酸激酶抑制剂(epidermal growth factor receptor tyrosine kinase inhibitor,EGFR-TKI)对EGFR敏感突变患者的显著疗效,将肺癌的治疗模式带入了分子靶向治疗时代。而棘皮类微管相关样蛋白-4-间变型淋巴瘤激酶(echinoderm microtubule-associated protein like 4-anaplastic lymphoma kinase,EML4-ALK)融合基因的发现,使肺癌个体化靶向治疗理念得以深化。目前多个肺癌分子靶点和分子靶向药物也正在研究或临床试验当中。但是,只有特定基因型的患者才能从相应靶向药物治疗中获益,且靶向药物的原发和继发耐药也成为治疗中不可忽视的问题。因此,为使更多的患者从靶向治疗中获益,对非小细胞肺癌(non-small cell lung cancer,NSCLC)患者群体进行精确的分子亚型区分,成为了肺癌靶向治疗成功的重要条件。

In recent years,molecular targeted therapy has become a research hot spot of lung cancer.The identification of driver genetic alternations and the application of molecular targeted drugs have prolonged survival of non-small cell lung cancer（NSCLC） patients.Epidermal growth factor receptor tyrosine kinase inhibitors（EGFRTKIs） targeting EGFR mutations provide significant clinical benefit and are the preferred therapeutic option in these patients.In addition,the impressive activity of anaplastic lymphoma kinase inhibitor in tumors harboring ALK rearrangement also provide an optional treatment for NSCLC patients,which widens the understanding of personalized therapy.Ongoing clinical trials are assessing the clinical benefits from targeting other driver genetic alterations.However,the patients only with a particular genotype can benefit from the corresponding targeted agents and the resistance to target drugs emerged is a concern for the further use of these agents.Therefore,precise genetic testing of NSCLC is centrally important to benefit more patients from the molecular targeted therapy.