Saito Motonobu, Momma Tomoyuki, Kono Koji
Department of Gastrointestinal Tract Surgery, Fukushima Medical University School of Medicine.
Fukushima J Med Sci. 2018 Apr 17;64(1):9-14. doi: 10.5387/fms.2018-02. Epub 2018 Apr 7.
Targeted therapy against actionable gene mutations shows a significantly higher response rate as well as longer survival compared to conventional chemotherapy, and has become a standard therapy for many cancers. Recent progress in next-generation sequencing (NGS) has enabled to identify huge number of genetic aberrations. Based on sequencing results, patients recommend to undergo targeted therapy or immunotherapy. In cases where there are no available approved drugs for the genetic mutations detected in the patients, it is recommended to be facilitate the registration for the clinical trials. For that purpose, a NGS-based sequencing panel that can simultaneously target multiple genes in a single investigation has been used in daily clinical practice. To date, various types of sequencing panels have been developed to investigate genetic aberrations with tumor somatic genome variants (gain-of-function or loss-of-function mutations, high-level copy number alterations, and gene fusions) through comprehensive bioinformatics. Because sequencing panels are efficient and cost-effective, they are quickly being adopted outside the lab, in hospitals and clinics, in order to identify personal targeted therapy for individual cancer patients.
与传统化疗相比,针对可操作基因突变的靶向治疗显示出显著更高的缓解率以及更长的生存期,并且已成为许多癌症的标准治疗方法。新一代测序(NGS)的最新进展使得能够识别大量的基因畸变。根据测序结果,建议患者接受靶向治疗或免疫治疗。如果患者检测到的基因突变没有可用的获批药物,则建议推动其进行临床试验注册。为此,一种基于NGS的测序 panel 已在日常临床实践中使用,该测序 panel 可以在一次检测中同时靶向多个基因。迄今为止,已经开发了各种类型的测序 panel,通过综合生物信息学来研究肿瘤体细胞基因组变异(功能获得或功能丧失突变、高水平拷贝数改变和基因融合)的基因畸变。由于测序 panel 高效且具有成本效益,它们正在迅速走出实验室,在医院和诊所中得到应用,以便为个体癌症患者确定个性化的靶向治疗方案。