非小细胞肺癌驱动基因研究进展

Advances on Driver Oncogenes of Non-small Cell Lung Cancer

腺癌和鳞癌是非小细胞肺癌(non-small cell lung cancer,NSCLC)最常见的两种病理类型。一些诱发和维持恶性肿瘤的分子改变被称为驱动基因。随着多重基因分型和高通量基因组分析等下一代(next-generation sequencing,NGS)测序技术的推广运用,使得从微小的肿瘤活检标本中检测病患者的癌症基因组成为可能,基于基因特征的临床研究也相继开展,进一步推动对NSCLC的分子分型。肺腺癌中约60%的驱动基因被确定,肺鳞癌驱动基因的检出率也在逐步提高,其中表皮生长因子受体(epidermal growth factor receptor,EGFR)、间变性淋巴瘤激酶(anaplastic lymphoma kinase,ALK)、成纤维细胞生长因子受体1(fibroblast growth factor receptor1,FGFR1)、磷脂酰肌醇3激酶催化亚单位A(phosphatidylinositol 3-kinase catalytic subunit alpha,PIK3CA)等起着重要作用,目前临床上有效的驱动基因靶向治疗主要是针对EGFR、ALK等。本文将对NSCLC驱动基因的意义及相关研究进行综述。

Adenocarcinoma and squamous cell carcinoma are the most common histological types of non-small cell lung cancer （NSCLC）. Several molecular alterations have been defined as ＂driver oncogenes＂ responsible for both the initia- tion and maintenance of the malignancy. With next-generation sequencing （NGS） which having multiple and high-throughput genotyping is wildly used and promoted, make the detection of patients gene composition from a tiny tumor biopsy specimens become possible, initiate the clinical studies based on the genetic characteristics, and promote the progress of molecular typing in NSCLC. So far, about 60% of lung adenocarcinoma has been found harbouring driver oncogenes, the rate of lung squamous cell carcinoma driven genes detection has gradually improved, in which epidermal growth factor receptor （EGFR）, anaplastic lymphoma kinase （ALK）, fibroblast growth factor receptor 1 （FGFR1）, phosphatidylinositol 3-kinase catalytic subunit alpha （PIK3CA） and so on plays important roles. The currently effective targeted therapies is mainly used against EGFR, ALK, etc. In this review, we will report the mainly advances on some latest driver mutations of NSCLC.