Division of Neurosurgery, Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
Neurosurg Focus. 2010 Jan;28(1):E6. doi: 10.3171/2009.10.FOCUS09218.
Advances in the field of genomics have recently enabled the unprecedented characterization of the cancer genome, providing novel insight into the molecular mechanisms underlying malignancies in humans. The application of high-resolution microarray platforms to the study of medulloblastoma has revealed new oncogenes and tumor suppressors and has implicated changes in DNA copy number, gene expression, and methylation state in its etiology. Additionally, the integration of medulloblastoma genomics with patient clinical data has confirmed molecular markers of prognostic significance and highlighted the potential utility of molecular disease stratification. The advent of next-generation sequencing technologies promises to greatly transform our understanding of medulloblastoma pathogenesis in the next few years, permitting comprehensive analyses of all aspects of the genome and increasing the likelihood that genomic medicine will become part of the routine diagnosis and treatment of medulloblastoma.
基因组学领域的最新进展使人们能够以前所未有的方式对癌症基因组进行描述，从而深入了解人类恶性肿瘤的分子机制。将高分辨率微阵列平台应用于对髓母细胞瘤的研究揭示了新的癌基因和肿瘤抑制基因，并表明 DNA 拷贝数、基因表达和甲基化状态的改变与其病因有关。此外，髓母细胞瘤基因组学与患者临床数据的整合证实了具有预后意义的分子标志物，并强调了分子疾病分层的潜在效用。下一代测序技术的出现有望在未来几年极大地改变我们对髓母细胞瘤发病机制的理解，从而可以全面分析基因组的各个方面，并增加基因组医学成为髓母细胞瘤常规诊断和治疗一部分的可能性。
