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通用基因组检测:肿瘤学决策的下一步还是死胡同?

Universal Genomic Testing: The next step in oncological decision-making or a dead end street?

作者信息

Holch Julian Walter, Metzeler Klaus Hans, Jung Andreas, Riedmann Kristina, Jost Philipp Jakob, Weichert Wilko, Kirchner Thomas, Heinemann Volker, Westphalen Christoph Benedikt

机构信息

Department of Internal Medicine III, Comprehensive Cancer Center Munich, University Hospital Grosshadern, Ludwig-Maximilians-Universität München, Marchioninistrasse 15, 81377 Munich, Germany; German Cancer Consortium (DKTK), Partner Site Munich and German Cancer Research Centre (DKFZ), Heidelberg, Germany.

German Cancer Consortium (DKTK), Partner Site Munich and German Cancer Research Centre (DKFZ), Heidelberg, Germany; Institute of Pathology, Ludwig-Maximilians-Universität München, Thalkirchnerstr. 36, 80337 Munich, Germany.

出版信息

Eur J Cancer. 2017 Sep;82:72-79. doi: 10.1016/j.ejca.2017.05.034. Epub 2017 Jul 10.

DOI:10.1016/j.ejca.2017.05.034
PMID:28648701
Abstract

The concept of 'personalised medicine' aims at allocating patients to different treatment options based on individual characteristics to optimise treatment benefit and side effects. In oncology, personalised treatments coupled to biomarkers have led to the approval of targeted agents with high anti-tumour activity. However, these therapies are often limited to narrow, molecularly defined subsets of patients with a specific morphomolecular tumour profile. Recently, it became obvious that the same molecular alteration might drive oncogenesis in many different tumours, and it might be beneficial to target the alteration in a histology informed but entity-overarching way. Consequently, Universal Genomic Testing (UGT) of tumours encompassing panel sequencing to whole-exome and transcriptome sequencing is propagated to revolutionise oncology. This article will describe the developments leading to identification and application of potential biomarkers using UGT. On this basis, it will review the clinical evidence of this approach and summarise recommendations for the ongoing evaluation of UGT as the next step in oncological decision-making.

摘要

“个性化医疗”的概念旨在根据个体特征为患者分配不同的治疗方案,以优化治疗效果和副作用。在肿瘤学领域,与生物标志物相结合的个性化治疗已促使具有高抗肿瘤活性的靶向药物获得批准。然而,这些疗法通常仅限于分子特征明确的狭窄患者亚群,这些患者具有特定的形态分子肿瘤特征。最近,很明显同一分子改变可能在许多不同肿瘤中驱动肿瘤发生,以组织学为依据但跨越肿瘤实体的方式靶向这种改变可能是有益的。因此,肿瘤的通用基因组检测(UGT),包括从基因panel测序到全外显子组和转录组测序,正在推广,以彻底改变肿瘤学。本文将描述导致使用UGT识别和应用潜在生物标志物的进展。在此基础上,将回顾这种方法的临床证据,并总结关于正在进行的UGT评估的建议,作为肿瘤学决策的下一步。

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