Jhanwar Shalu, Deogade Ajinkya
Developmental Genetics, Department of Biomedicine, University of Basel, 4058 Basel, Switzerland.
Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Universitat Pompeu Fabra (UPF), 08003 Barcelona, Spain.
Epigenomes. 2019 May 9;3(2):9. doi: 10.3390/epigenomes3020009.
In addition to the genetic variations, recent evidence has shown that DNA methylation of both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) underlies the pathogenesis of pediatric cancer. Given the high mortality rate, there is an urgent need to study the mechanisms contributing to the pathogenicity of pediatric cancer. Over the past decades, next-generation sequencing (NGS) has enabled us to perform genome-wide screening to study the complex regulatory mechanisms of 5mC and 5hmC underlying pediatric tumorigenesis. To shed light on recent developments on pediatric cancer predisposition and tumor progression, here we discuss the role of both genome-wide and locus-specific dysregulation of 5mC and 5hmC in hematopoiesis malignancy and neuroblastoma, the most common types of pediatric cancer, together with their therapeutic potential.
除了基因变异外，最近的证据表明，5-甲基胞嘧啶（5mC）和5-羟甲基胞嘧啶（5hmC）的DNA甲基化是儿童癌症发病机制的基础。鉴于高死亡率，迫切需要研究导致儿童癌症致病性的机制。在过去几十年中，下一代测序（NGS）使我们能够进行全基因组筛查，以研究5mC和5hmC在儿童肿瘤发生中的复杂调控机制。为了阐明儿童癌症易感性和肿瘤进展的最新进展，在此我们讨论5mC和5hmC在全基因组和位点特异性失调在造血系统恶性肿瘤和神经母细胞瘤（最常见的儿童癌症类型）中的作用及其治疗潜力。
