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临床肿瘤学的基因组时代:用于精准癌症治疗的综合基因组分析

The Genomic Era of Clinical Oncology: Integrated Genomic Analysis for Precision Cancer Care.

作者信息

Surrey Lea F, Luo Minjie, Chang Fengqi, Li Marilyn M

机构信息

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

出版信息

Cytogenet Genome Res. 2016;150(3-4):162-175. doi: 10.1159/000454655. Epub 2016 Dec 22.

Abstract

Genomic alterations are important biological markers for cancer diagnosis and prognosis, disease classification, risk stratification, and treatment selection. Chromosomal microarray analysis (CMA) and next-generation sequencing (NGS) technologies are superb new tools for evaluating cancer genomes. These state-of-the-art technologies offer high-throughput, highly accurate, targeted and whole-genome evaluation of genomic alterations in tumor tissues. The application of CMA and NGS technologies in cancer research has generated a wealth of useful information about the landscape of genomic alterations in cancer and their implications in cancer care. As the knowledge base in cancer genomics and genome biology grows, the focus of research is now shifting toward the clinical applications of these technologies to improve patient care. Although not yet standard of care in cancer, there is an increasing interest among the cancer genomics communities in applying these new technologies to cancer diagnosis in the Clinical Laboratory Improvement Amendments (CLIA)-certified laboratories. Many clinical laboratories have already started adopting these technologies for cancer genomic analysis. We anticipate that CMA and NGS will soon become the major diagnostic means for cancer genomic analysis to meet the increasing demands of precision cancer care.

摘要

基因组改变是癌症诊断、预后、疾病分类、风险分层和治疗选择的重要生物学标志物。染色体微阵列分析(CMA)和下一代测序(NGS)技术是评估癌症基因组的出色新工具。这些先进技术可对肿瘤组织中的基因组改变进行高通量、高精度、靶向和全基因组评估。CMA和NGS技术在癌症研究中的应用已经产生了大量关于癌症基因组改变格局及其在癌症治疗中意义的有用信息。随着癌症基因组学和基因组生物学知识库的不断增长,研究重点目前正转向这些技术的临床应用,以改善患者护理。尽管这些技术尚未成为癌症的标准治疗方法,但癌症基因组学界越来越有兴趣在经过临床实验室改进修正案(CLIA)认证的实验室中将这些新技术应用于癌症诊断。许多临床实验室已经开始采用这些技术进行癌症基因组分析。我们预计,CMA和NGS很快将成为癌症基因组分析的主要诊断手段,以满足精准癌症治疗日益增长的需求。

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