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肿瘤大基因包高通量测序在临床中的应用进展
引用本文:程亚楠,于津浦. 肿瘤大基因包高通量测序在临床中的应用进展[J]. 中国肿瘤临床, 2019, 46(2): 94-98. DOI: 10.3969/j.issn.1000-8179.2019.02.386
作者姓名:程亚楠  于津浦
作者单位:天津医科大学肿瘤医院肿瘤分子诊断中心,国家肿瘤临床医学研究中心,天津市肿瘤防治重点实验室,天津市恶性肿瘤临床医学研究中心(天津市300060)
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
收稿时间:2018-12-25

Advances in the clinical applications of large panel high-throughput sequencing in tumors
Yanan Cheng,Jinpu Yu. Advances in the clinical applications of large panel high-throughput sequencing in tumors[J]. Chinese Journal of Clinical Oncology, 2019, 46(2): 94-98. DOI: 10.3969/j.issn.1000-8179.2019.02.386
Authors:Yanan Cheng  Jinpu Yu
Affiliation:Cancer Molecular Diagnostics Core, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Tianjin's 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 provides 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
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