Somatic mutations and DNA methylation identify a subgroup of poor prognosis within lower risk myelodysplastic syndromes [array]

Lower-risk (LR) myelodysplastic syndromes (MDS) are heterogeneous hematopoietic stem and progenitor disorders caused by early accumulation of somatic mutations in epigenetic factors and non-epigenetic factors that may produce convergent DNA methylation patterns driving specific gene expression profiles. The integration of genomic, epigenomic and transcriptomic profiling has the potential to spotlight distinct LR-MDS categories on the basis of pathophysiological mechanisms. DNA methylation profiling of 175 low-risk MDS patients, including 28 with rapid progression to leukemia, and 7 age-matched healthy controls.

低风险骨髓增生异常综合征（Lower-risk myelodysplastic syndromes, MDS）是一类异质性造血干祖细胞疾病，其发病与表观遗传因子及非表观遗传因子中早期积累的体细胞突变相关，这类突变可形成趋同的DNA甲基化模式，进而驱动特定的基因表达谱。整合基因组、表观基因组与转录组谱学分析，有望基于病理生理机制明确不同的LR-MDS类别。本数据集包含175例低风险MDS患者（其中28例会快速进展为白血病）以及7例年龄匹配的健康对照的DNA甲基化谱学分析数据。