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本文引用的文献

1
Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients.从10000例患者的前瞻性临床测序中揭示的转移性癌症的突变图谱。
Nat Med. 2017 Jun;23(6):703-713. doi: 10.1038/nm.4333. Epub 2017 May 8.
2
Non-Small Cell Lung Cancer, Version 5.2017, NCCN Clinical Practice Guidelines in Oncology.非小细胞肺癌临床实践指南(2017 年第 5 版),NCCN 肿瘤学临床实践指南
J Natl Compr Canc Netw. 2017 Apr;15(4):504-535. doi: 10.6004/jnccn.2017.0050.
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Treatment of lung adenocarcinoma by molecular-targeted therapy and immunotherapy.分子靶向治疗和免疫治疗对肺腺癌的治疗
Surg Today. 2018 Jan;48(1):1-8. doi: 10.1007/s00595-017-1497-7. Epub 2017 Mar 9.
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Frequent amplification of receptor tyrosine kinase genes in welldifferentiated/ dedifferentiated liposarcoma.在高分化/去分化脂肪肉瘤中受体酪氨酸激酶基因的频繁扩增。
Oncotarget. 2017 Feb 21;8(8):12941-12952. doi: 10.18632/oncotarget.14652.
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Association of variations in HLA class II and other loci with susceptibility to EGFR-mutated lung adenocarcinoma.HLA Ⅱ类和其他位点的变异与 EGFR 突变型肺腺癌易感性的关联。
Nat Commun. 2016 Aug 9;7:12451. doi: 10.1038/ncomms12451.
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Gene aberrations for precision medicine against lung adenocarcinoma.用于肺癌精准医疗的基因畸变
Cancer Sci. 2016 Jun;107(6):713-20. doi: 10.1111/cas.12941. Epub 2016 May 25.
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NCI-MATCH trial pushes cancer umbrella trial paradigm.美国国立癌症研究所匹配试验推动癌症综合试验模式。
Nat Rev Drug Discov. 2015 Aug;14(8):513-5. doi: 10.1038/nrd4694.
8
Development and validation of a scalable next-generation sequencing system for assessing relevant somatic variants in solid tumors.用于评估实体瘤中相关体细胞变异的可扩展下一代测序系统的开发与验证
Neoplasia. 2015 Apr;17(4):385-99. doi: 10.1016/j.neo.2015.03.004.
9
Profiling of actionable gene alterations in ovarian cancer by targeted deep sequencing.通过靶向深度测序分析卵巢癌中可操作的基因改变
Int J Oncol. 2015;46(6):2389-98. doi: 10.3892/ijo.2015.2951. Epub 2015 Apr 3.
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Crizotinib in ROS1-rearranged non-small-cell lung cancer.克唑替尼用于ROS1重排的非小细胞肺癌
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根据基于新一代测序的综合测序进行靶向治疗。

Targeted therapy according to next generation sequencing-based panel sequencing.

作者信息

Saito Motonobu, Momma Tomoyuki, Kono Koji

机构信息

Department of Gastrointestinal Tract Surgery, Fukushima Medical University School of Medicine.

出版信息

Fukushima J Med Sci. 2018 Apr 17;64(1):9-14. doi: 10.5387/fms.2018-02. Epub 2018 Apr 7.

DOI:10.5387/fms.2018-02
PMID:29628467
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5956085/
Abstract

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.

摘要

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。