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

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. Overall design: Transcriptome profiling of 185 BM MNC RNA low-risk MDS patients, including 30 with rapid progression to leukemia, and 7 age-matched healthy controls.