With the rapid advances in sequencing technologies, somatic mutations were also identified to contribute to disease progression in MDS, such as genes encoding transcription factors (ETV6 and TP53), epigenetic regulators [DNMT3A (methylation), TET2 and IDH1/2 (hydroxymethylation), EZH2 and ASXL1 (histones modifications)], and splicing factors (U2AF1)22,23. This evidence concerns the gene DNMT3A and myelodysplastic syndrome.