肿瘤大基因包高通量测序在临床中的应用进展·综述-中国肿瘤临床.PDF

94 中国肿瘤临床2019年第46卷第2期 ChinJClinOncol2019.Vol.46.No.2 综 述 · · 肿瘤大基因包高通量测序在临床中的应用进展 程亚楠 综述 于津浦 审校 摘要 随着高通量测序技术的推进、大数据处理分析水平的提升，以及基于各种分子标记物的靶向治疗和免疫治疗抗肿瘤活性 的表现，以高通量测序和大数据为基础的诊疗逐渐应用于临床，不同基因数的基因包（panel）检测为肿瘤诊疗提供依据。本文就 高通量测序panel的分类，大panel在肿瘤诊断、靶向治疗、免疫治疗中的应用以及大panel在临床应用中所遇到的问题进行综述， 旨在为其在临床上的应用提供参考，促进精准医疗推广应用。 关键词 高通量测序 大panel 免疫治疗 靶向治疗 肿瘤突变负荷 doi:10.3969/j.issn.1000-8179.2019.02.386 Advances in the clinical applications of large panel high-throughput sequencing in tu- mors Yanan Cheng, Jinpu Yu Correspondence to: Jinpu Yu; E-mail: yujinpu@ Cancer Molecular Diagnostics Core, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Can- cer, Key Laboratory of Cancer Prevention and Therapy, Tianjins Clinical Research Center for Cancer, Tianjin 300060, China Abstract With the advancement of high-throughput sequencing technology, improvements in big data processing and analysis have been witnessed. Evaluation of anti-tumor effects of targeted therapy and immunotherapy using various molecular markers based on high-throughput sequencing and big data are moving towards clinical application. Panel detection of different genetic markers pro- vides the basis for cancer diagnosis and treatment. In this article, the classification of high-throughput sequencing panel, application of large panel in cancer diagnosis, targeted therapy, immunotherapy, and the problems encountered in the clinical application of large panels are reviewed in order to provide a reference for their clinical application and promote the advancement of precision medicine. Keywords: high-throughput sequencing, large panel, immunotherapy, targeted therapy, tumor mutation burden 近年来，随着基因组学和转化医学的快速发展， Administration，FDA）/中国国家药品监督管理局（Na⁃ 人们对肿瘤的认识已从组织水平深入到分子水平， tionalMedicalProductsAdministration，NMPA）等批准 越来越多的肿瘤分子标记物被发现，在临床上基于 的多癌种靶向药物的靶点，甚至包含临床试验相关 各种分子标记物的靶向治疗和免疫治疗表现出极大 靶向药物的靶点等，为多