文章：

髓母细胞组学重访：来自数千名患者的生物学和临床见解

Medulloblastomics revisited: biological and clinical insights from thousands of patients

原文发布日期：2019-12-09

DOI: 10.1038/s41568-019-0223-8

类型: Review Article

开放获取: 否

英文摘要：

Medulloblastoma, a malignant brain tumour primarily diagnosed during childhood, has recently been the focus of intensive molecular profiling efforts, profoundly advancing our understanding of biologically and clinically heterogeneous disease subgroups. Genomic, epigenomic, transcriptomic and proteomic landscapes have now been mapped for an unprecedented number of bulk samples from patients with medulloblastoma and, more recently, for single medulloblastoma cells. These efforts have provided pivotal new insights into the diverse molecular mechanisms presumed to drive tumour initiation, maintenance and recurrence across individual subgroups and subtypes. Translational opportunities stemming from this knowledge are continuing to evolve, providing a framework for improved diagnostic and therapeutic interventions. In this Review, we summarize recent advances derived from this continued molecular characterization of medulloblastoma and contextualize this progress towards the deployment of more effective, molecularly informed treatments for affected patients.

摘要翻译： 

髓母细胞瘤是一种主要在儿童期被诊断出的恶性脑肿瘤，近年来已成为分子谱分析研究的重点，极大推动了我们对生物学和临床表现异质性疾病亚组的认识。目前，研究人员已对前所未有的髓母细胞瘤患者大体积样本以及近期对单个髓母细胞瘤细胞，绘制出基因组学、表观基因组学、转录组学和蛋白质组学图谱。这些工作为揭示不同分子机制提供了关键新见解，这些机制被认为驱动着各亚组和亚型中肿瘤的发生、维持与复发。基于这些知识的转化应用正在持续发展，为改进诊断和治疗干预提供了框架。本篇综述中，我们总结了髓母细胞瘤持续分子特征研究带来的最新进展，并将这些进展置于临床背景下，探讨如何为受影响患者部署更有效的分子指导治疗方案。

原文链接：

Medulloblastomics revisited: biological and clinical insights from thousands of patients