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使用下一代测序技术对临床晚期癌症进行突变分析以指导靶向治疗:寿命研究经验

Mutation Profiling of Clinically Advanced Cancers Using Next-Generation Sequencing for Targeted Therapy: A Lifespan Experience.

作者信息

Friedman Kenneth, Resnick Murray B, Safran Howard

机构信息

Gastrointestinal Pathology Fellow in the Department of Pathology at Lifespan/Rhode Island Hospital.

Professor of Pathology at the Alpert Medical School of Brown University and Vice Chair of Pathology and Director of Gastrointestinal Pathology at Lifespan/Rhode Island Hospital.

出版信息

R I Med J (2013). 2015 Oct 1;98(10):16-20.

Abstract

The application of modern molecular tests such as next-generation sequencing (NGS) to human malignancies has led to better understanding of tumor biology and the design of targeted molecular therapies. In the research setting, important genomic alterations in tumors have been discovered with potential therapeutic implications but data regarding the impact of this technology in a real world oncology practice is limited. As a result, we decided to review the results of NGS in 144 advanced-stage cancer patients referred to the oncology practices of Lifespan-affiliated centers in Rhode Island. Most cancers revealed genomic alterations in genes commonly mutated in cancer. However, several unexpected genomic alterations were discovered in certain cancers with potential therapeutic intervention. Most cancers contained "actionable" genomic alterations despite being of advanced stage. Our experience demonstrates that application of NGS in the clinical setting contributes both to increasing the therapeutic armamentarium as well as our understanding of tumor biology.

摘要

将下一代测序(NGS)等现代分子检测应用于人类恶性肿瘤,有助于更好地理解肿瘤生物学并设计靶向分子疗法。在研究环境中,已发现肿瘤中重要的基因组改变具有潜在的治疗意义,但关于该技术在现实世界肿瘤学实践中的影响的数据有限。因此,我们决定回顾144例转诊至罗德岛州寿命相关中心肿瘤学实践的晚期癌症患者的NGS结果。大多数癌症显示出在癌症中常见突变的基因发生了基因组改变。然而,在某些癌症中发现了一些意想不到的基因组改变,具有潜在的治疗干预作用。尽管处于晚期,但大多数癌症都含有“可操作的”基因组改变。我们的经验表明,在临床环境中应用NGS有助于增加治疗手段以及我们对肿瘤生物学的理解。

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