Research on molecular markers for epigenetic changes in myeloid malignancies / 中华医学遗传学杂志

ABSTRACT

Novel recurrent somatic mutations have been identified in patients with myeloid malignancies including myeloproliferative neoplasms (MPNs), myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML). Mutations of tet methylcytosine dioxygenase 2 (TET2), DNA methyltransferase 3A (DNMT3A), isocitrate dehydrogenase (IDH)1/2, enhancer of zeste homologue 2 (EZH2) and additional sex combs-like 1 (ASXL1) have been shown to play important roles in the regulation of epigenetic patterning, and may be used as molecular predictors for pathogenesis and clinical outcome for patients with myeloid malignancies.