Role of mutations in epigenetic regulators in pathogenesis of myeloid malignancies

Abstract

Clinical, cytogenetic, and gene-based studies have been used to inform biology and improve prognostication for patients with acute myeloid leukemia (AML), myelodysplasia (MDS), and myeloroliferative neoplasms (MPN). Most recently, a series of candidate gene and whole genome studies have identified recurrent somatic mutations in AML, MDS, and MPN patients including TET2, ASXL1, DNMT3A, and EZH2, mutations. We and others have shown these mutations are of prognostic relevance, and can be used to improve risk stratification in AML, MDS, and MPN.