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应对癌症诊断中的基因组革命。

Managing the genomic revolution in cancer diagnostics.

作者信息

Nguyen Doreen, Gocke Christopher D

机构信息

The Department of Pathology, Johns Hopkins University, Baltimore, MD, 21287, USA.

The Department of Oncology, Johns Hopkins University, Baltimore, MD, 21287, USA.

出版信息

Virchows Arch. 2017 Aug;471(2):175-194. doi: 10.1007/s00428-017-2175-2. Epub 2017 Jun 21.

Abstract

Molecular tumor profiling is now a routine part of patient care, revealing targetable genomic alterations and molecularly distinct tumor subtypes with therapeutic and prognostic implications. The widespread adoption of next-generation sequencing technologies has greatly facilitated clinical implementation of genomic data and opened the door for high-throughput multigene-targeted sequencing. Herein, we discuss the variability of cancer genetic profiling currently offered by clinical laboratories, the challenges of applying rapidly evolving medical knowledge to individual patients, and the need for more standardized population-based molecular profiling.

摘要

分子肿瘤分析如今已成为患者护理的常规部分,它揭示了具有治疗和预后意义的可靶向基因组改变以及分子特征不同的肿瘤亚型。新一代测序技术的广泛应用极大地推动了基因组数据的临床应用,并为高通量多基因靶向测序打开了大门。在此,我们讨论了临床实验室目前提供的癌症基因分析的变异性、将快速发展的医学知识应用于个体患者所面临的挑战,以及更标准化的基于人群的分子分析的必要性。

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