title: [DNMT3A gene mutations in acute myeloid leukemia].
abstract: Epigenetic changes, including abnormal DNA methylation, have been identified to play significant roles in tumor initiation and progression. Recently, mutations of DNMT3A were identified in acute myeloid leukemia (AML), which possibly caused changes in DNA methylation, and indicated a poor prognosis. Sequencing analysis showed that most of the mutations were single nucleotide variations, including a hotspot Arg882. DNMT3A mutations were detected in about 20% AML patients, and closely associated with the age over 60, the M(4), M(5) subtypes and intermediate-risk cytogenetics. Others showed that these alterations also present in myelodysplastic syndrome (MDS) and primary myelofibrosis (PMF) prior to development of the obvious leukemia, indicating that these mutations might contribute to leukemogenesis. However, its prognostic value of minimal residual disease and role of therapeutic targets are still unclear, focusing on a large cohort of AML patients will solve these issues. In this review, the achievement in studying DNMT3A gene mutation are summarized, and the latest research progress is briefly discussed.
authors.affiliation: Department of Hematology, Xiamen University, Xiamen, Fujian Province, China.
authors.forename: Ya-Mei
authors.initials: YM
authors.lastname: Chen
authors.forename: Quan-Yi
authors.initials: QY
authors.lastname: Lu
mesh_terms: D004248:DNA (Cytosine-5-)-Methyltransferases / Q000235:genetics*; D019175:DNA Methylation; D000090205:DNA Methyltransferase 3A; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D009154:Mutation
chemical_list: C000717967:DNMT3A protein, human; D004248:DNA (Cytosine-5-)-Methyltransferases; D000090205:DNA Methyltransferase 3A