肿瘤二代测序临床报告解读共识

doi:10.12019/j.issn.1671-5144.2022.02.001

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摘要随着新型治疗药物的研发以及多学科综合治疗模式的优化,传统的病理分型及检测方法已经不足以满足临床需求,二代测序（next generation sequencing,NGS）已成为中国肿瘤医生常用的检测手段。为进一步协助临床医生理解临床靶点或驱动基因相关变异注释及解读、梳理NGS报告的逻辑、提升抓取关键信息,二代测序临床报告解读肿瘤学专家组对国内外NGS检测最新进展进行认真分析、讨论和总结,在《二代测序临床报告解读指引》基础上增加部分NGS报告解读示例,同源重组缺陷（homologous recombination deficiency,HRD）及微小/分子/可测量残留病灶（minimal/molecular/measurable residual disease,MRD）相关内容解读,制定了《肿瘤二代测序临床报告解读共识》,最终帮助临床医生做出正确的临床决策。

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	二代测序临床报告解读肿瘤学专家组

关键词 ：二代测序; 报告解读; 共识;

Abstract：With the development of new therapeutic drugs and the optimization of multidisciplinary comprehensive treatment models, traditional pathological typing and detection methods are no longer sufficient to meet clinical needs. Next generation sequencing （NGS） has become a commonly used detection method by Chinese oncologists. In order to further assist clinicians to understand the annotation and interpretation of variants related to clinical targets or driver genes, sort out the logic of NGS reports, and improve the capture of key information, The Oncology Expert Group on the Interpretation of NGS Clinical Reports performed careful analysis, discussion, and summary based on the latest progress in NGS testing at home and abroad, and added some examples of NGS report interpretation, as well as interpretation of homologous recombination deficiency （HRD） and minimal/molecular/measurable residual disease （MRD） related content according to the “Guidelines for the Interpretation of Next-Generation Sequencing Clinical Reports”, and formulated the “Consensus on Interpretation of Clinical Reports for Next-Generation Sequencing of Tumors” to help clinicians make the right clinical decisions.

Key words： next generation sequencing; report interpretation; consensus;

收稿日期: 2022-03-14

本文被引用次数:

中图分类号:

R446.7

基金资助:国家自然科学基金面上项目（82173202）; 广东省肺癌转化医学重点实验项目（2017B030314120）; 广东省自然科学基金资助项目（2019A1515010900）; 广东省人民医院登峰计划资助项目（DFJH201903 & KJ012019444&8197103306）

通讯作者: 张绪超, Tel：020-83827812, E-mail：zhxuchao3000@126.com。

引用本文:

二代测序临床报告解读肿瘤学专家组. 肿瘤二代测序临床报告解读共识[J]. 循证医学, 2022, 22(2): 65-79.
The Oncology Expert Group on the Interpretation of Next Generation Sequencing Clinical Reports. Consensus on Interpretation of Clinical Reports for Next-Generation Sequencing of Tumors[J]. Journal of Evidence-based Medicine, 2022, 22(2): 65-79.

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http://www.jebm.cn/CN/10.12019/j.issn.1671-5144.2022.02.001 或 http://www.jebm.cn/CN/Y2022/V22/I2/65

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