下一代测序在肿瘤个体化治疗中的应用

Application of next generation sequencing in individualized tumor therapy

目的探讨下一代测序(NGS)技术应用于肿瘤个体化治疗的可行性。方法选取2016年1月至2017年7月间中山大学肿瘤防治中心收治的20例肿瘤患者的临床样本,采用Illumina Next Seq500平台,利用靶向捕获建库技术,检测20例肿瘤样本中295个与肿瘤发生机制及靶向治疗密切相关的基因,采用传统PCR技术如荧光原位杂交(FISH)、飞行质谱(Sequenom MassARRAY)、一代测序(Sanger)或扩增阻滞突变系统(ARMS-PCR)等技术进行验证。结果 NGS检测技术参数稳定,与传统PCR技术检测结果符合率为100. 0%。结论与传统方法相比,NGS技术在临床应用中可同时检测多个可能的药物靶点,推动精准分子诊断及个体化治疗发展。

Objective To evaluate the feasibility of next generation sequencing(NGS)in individualized cancer therapy.Methods This study used Illumina Next Seq500 platform and targeted capture library technology to detect 295 genes closely related to cancer pathogenesis and targeted therapy in 20 cancer samples at one time from January 2016 to July 2017.According to the detected target genes,traditional PCR techniques such as fluorescence in situ hybridization(FISH),flight mass spectrometry(Sequenom Mass ARRAY),validation of generation sequencing(Sanger)or amplified block mutation system(ARMSPCR)were used.Results The parameters of NGS detection technology were stable,and the coincidence rate with the results of traditional PCR technology was 100%.Conclusion Compared with traditional methods,NGS technology can detect multiple possible drug targets simultaneously,which greatly promotes the development of precise molecular diagnosis and individualized treatment.