Liang Zhiyong, Cheng Ying, Chen Yuan, Hu Yanping, Liu Wei-Ping, Lu You, Wang Jie, Wang Ye, Wu Gang, Ying Jian-Ming, Zhang He-Long, Zhang Xu-Chao, Wu Yi-Long
Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Department of Oncology, Jilin Provincial Cancer Hospital, Changchun, China.
Cancer Lett. 2017 Sep 10;403:186-194. doi: 10.1016/j.canlet.2017.06.008. Epub 2017 Jun 19.
Somatic mutation in the epidermal growth factor receptor (EGFR) predict clinical response to EGFR tyrosine kinase inhibitors in non-small cell lung cancer (NSCLC) and is a promising target for personalised medicine. EGFR mutations have prognostic value. Initially patients respond well to tyrosine kinase inhibitors but finally they would develop resistance and about 50% of this resistance can be attributed to the emergence of EGFR resistant mutation, T790M. This necessitates the need for genetic testing for clinical management of patients. Molecular testing has become the standard of care in patients with NSCLCs based on the recommendations of standard guidelines. Though there are several platforms for EGFR mutation detection, highly sensitive platforms for clinical applicability as companion diagnostics for ctDNA based testing are emerging. Due to the dynamic changes in the T790M mutation during tyrosine kinase inhibitor (TKI) treatment, real-time monitoring of these genetic alterations is mandate for planning treatment strategies. With the advent of third generation TKIs that potentially target T790M, improvement in clinical outcome is documented in patients with NSCLCs. Managing these outcomes with appropriate companion diagnostics using ctDNA in early detection of these genetic alterations will improve patient care.
表皮生长因子受体（EGFR）的体细胞突变可预测非小细胞肺癌（NSCLC）患者对EGFR酪氨酸激酶抑制剂的临床反应，是个性化医疗中一个很有前景的靶点。EGFR突变具有预后价值。最初患者对酪氨酸激酶抑制剂反应良好，但最终会产生耐药性，其中约50%的耐药性可归因于EGFR耐药突变T790M的出现。这就需要对患者进行基因检测以进行临床管理。根据标准指南的建议，分子检测已成为NSCLC患者的标准治疗方法。虽然有几种EGFR突变检测平台，但作为基于ctDNA检测的伴随诊断方法，具有高临床适用性的高灵敏度平台正在出现。由于酪氨酸激酶抑制剂（TKI）治疗期间T790M突变的动态变化，对这些基因改变进行实时监测对于制定治疗策略至关重要。随着可能靶向T790M的第三代TKI的出现，NSCLC患者的临床结局有了改善。在早期检测这些基因改变时，使用ctDNA进行适当的伴随诊断来管理这些结局将改善患者护理。
