title: DNMT3A R882 mutation is associated with elevated expression of MAFB and M4/M5 immunophenotype of acute myeloid leukemia blasts.
abstract: Researchers have recognized that aberrant methylation is an important initiating event in the pathogenesis of hematological malignancies. DNMT3A is a DNA methyltransferase that plays a vital role in de novo methylation of DNA. Somatic mutation of DNMT3A, especially at the Arg882 (R882) site of the DNMT3A coding sequence, has been identified in pre-leukemic stem cell clones as one of the driver mutations of acute myeloid leukemia (AML). Statistical analysis has indicated that patients with AML with DNMT3A mutation tend to have the M4/M5 subtype of AML according to the French-American-British classification. In this study we aimed to investigate the association between the typical immunophenotype of leukemic blasts and mutation of DNMT3A R882. In addition, we further determined the relationship between DNMT3A R882 mutation and the expression of monocytic differentiation genes, and its clinical significance.
authors.affiliation: a Department of Hematology , Tongji Hospital affiliated by Tongji Medical College, Huazhong University of Science and Technology , Wuhan , Hubei Province , China.
authors.forename: Li
authors.initials: L
authors.lastname: Yang
authors.affiliation: a Department of Hematology , Tongji Hospital affiliated by Tongji Medical College, Huazhong University of Science and Technology , Wuhan , Hubei Province , China.
authors.forename: Ya'Nan
authors.initials: Y
authors.lastname: Liu
authors.affiliation: a Department of Hematology , Tongji Hospital affiliated by Tongji Medical College, Huazhong University of Science and Technology , Wuhan , Hubei Province , China.
authors.forename: Li
authors.initials: L
authors.lastname: Zhu
authors.affiliation: a Department of Hematology , Tongji Hospital affiliated by Tongji Medical College, Huazhong University of Science and Technology , Wuhan , Hubei Province , China.
authors.forename: Min
authors.initials: M
authors.lastname: Xiao
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D015415:Biomarkers; D016000:Cluster Analysis; D019295:Computational Biology / Q000379:methods; D004248:DNA (Cytosine-5-)-Methyltransferases / Q000235:genetics* / Q000378:metabolism; D000090205:DNA Methyltransferase 3A; D005260:Female; D005434:Flow Cytometry; D020869:Gene Expression Profiling; D015973:Gene Expression Regulation, Leukemic; D006801:Humans; D016130:Immunophenotyping / Q000379:methods; D053208:Kaplan-Meier Estimate; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism / Q000401:mortality; D051258:MafB Transcription Factor / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D011379:Prognosis; D015203:Reproducibility of Results; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D015415:Biomarkers; C000717967:DNMT3A protein, human; C490407:MAFB protein, human; D051258:MafB Transcription Factor; D004248:DNA (Cytosine-5-)-Methyltransferases; D000090205:DNA Methyltransferase 3A
keywords: DNMT3A; MAFB; differentiation; immunophenotype; monocyte