What is the clinical implication of DNMT3A mutations in acute myeloid leukemia (AML)?

Updated: May 26, 2020
  • Author: Karen Seiter, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

Ley et al identified a somatic mutation in DNMT3A, encoding a DNA methyltransferase, in the cells of a patient with AML and a normal karyotype. [35] The authors sequenced the exons of DNMT3A in 280 additional patients with de novo AML to define recurring mutations. A total of 62 of 281 patients (22.1%) had mutations in DNMT3A that were predicted to affect translation. These mutations were highly enriched in the group of patients with an intermediate-risk cytogenetic profile but were absent in all 79 patients with a favorable-risk cytogenetic profile. The median overall survival (OS) of patients with DNMT3A mutations was significantly shorter than that of patients without such mutations (12.3 vs. 41.1 mo, respectively; P< 0.001).


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