急性髓系白血病的功能基因组图谱。

Functional genomic landscape of acute myeloid leukaemia.

机构信息

Department of Cell, Developmental & Cancer Biology, Oregon Health & Science University, Portland, OR, USA.

Knight Cancer Institute, Oregon Health & Science University, Portland, OR, USA.

出版信息

Nature. 2018 Oct;562(7728):526-531. doi: 10.1038/s41586-018-0623-z. Epub 2018 Oct 17.

Abstract

The implementation of targeted therapies for acute myeloid leukaemia (AML) has been challenging because of the complex mutational patterns within and across patients as well as a dearth of pharmacologic agents for most mutational events. Here we report initial findings from the Beat AML programme on a cohort of 672 tumour specimens collected from 562 patients. We assessed these specimens using whole-exome sequencing, RNA sequencing and analyses of ex vivo drug sensitivity. Our data reveal mutational events that have not previously been detected in AML. We show that the response to drugs is associated with mutational status, including instances of drug sensitivity that are specific to combinatorial mutational events. Integration with RNA sequencing also revealed gene expression signatures, which predict a role for specific gene networks in the drug response. Collectively, we have generated a dataset-accessible through the Beat AML data viewer (Vizome)-that can be leveraged to address clinical, genomic, transcriptomic and functional analyses of the biology of AML.

摘要

针对急性髓系白血病(AML)的靶向治疗实施一直具有挑战性,这是因为患者体内和患者之间存在复杂的突变模式,并且大多数突变事件缺乏药物治疗。在这里,我们报告了从 562 名患者的 672 个肿瘤标本中收集的 Beat AML 计划的初步研究结果。我们使用全外显子组测序、RNA 测序和体外药物敏感性分析来评估这些标本。我们的数据揭示了以前在 AML 中未检测到的突变事件。我们表明,药物反应与突变状态相关,包括对特定组合突变事件敏感的药物反应。与 RNA 测序的整合还揭示了基因表达特征,这些特征表明特定基因网络在药物反应中起作用。总的来说,我们生成了一个可通过 Beat AML 数据查看器(Vizome)访问的数据集,该数据集可用于解决 AML 生物学的临床、基因组、转录组和功能分析。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/16e5/6280667/67acbe62ce07/nihms-1504008-f0004.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索