Swanton C, Caldas C
Translational Cancer Therapeutics Laboratory, Cancer Research UK London Research Institute, London, UK.
Br J Cancer. 2009 May 19;100(10):1517-22. doi: 10.1038/sj.bjc.6605031. Epub 2009 Apr 14.
The last decade has witnessed unprecedented developments in the genetic and epigenetic analyses of solid tumours. Transcriptional and DNA copy-number studies have improved our understanding and classification of solid tumours and highlighted the patterns of genomic aberrations associated with outcome. The identification of altered transcriptional and translational silencing by microRNAs and epigenetic modification by methylation in tumours has showed a layer of additional intricacy to the regulation of gene expression in different tumour types. The advent of massive parallel sequencing has allowed whole cancer genomes to be sequenced with extraordinary speed and accuracy providing insight into the bewildering complexity of gene mutations present in solid tumours. Functional genomic studies using RNA interference-screening tools promises to improve the classification of solid tumours by probing the relevance of each gene to tumour phenotype. In this review, we discuss how these studies have contributed to solid tumour classification and why such studies are central to the future of oncology. We suggest that these developments are gradually leading to a change in emphasis of early clinical trials to a therapeutic model guided by the molecular classification of tumours. The investigation of drug efficacy later in development is beginning to rely on patient selection defined by predictive molecular criteria that complement solid tumour classification based on anatomic site.
过去十年见证了实体瘤基因和表观遗传学分析取得的前所未有的进展。转录和DNA拷贝数研究增进了我们对实体瘤的理解和分类,并突出了与预后相关的基因组畸变模式。肿瘤中通过微小RNA改变转录和翻译沉默以及通过甲基化进行表观遗传修饰的发现,揭示了不同肿瘤类型中基因表达调控的另一层复杂性。大规模平行测序技术的出现使全癌基因组得以以极高的速度和准确性进行测序,从而深入了解实体瘤中存在的令人困惑的基因突变复杂性。使用RNA干扰筛选工具的功能基因组学研究有望通过探究每个基因与肿瘤表型的相关性来改进实体瘤的分类。在本综述中,我们讨论了这些研究如何促进实体瘤分类,以及为何此类研究对肿瘤学的未来至关重要。我们认为,这些进展正逐渐导致早期临床试验的重点从治疗模式转向以肿瘤分子分类为指导的模式。在药物研发后期对药物疗效的研究开始依赖于由预测性分子标准定义的患者选择,这些标准补充了基于解剖部位的实体瘤分类。