Effect of R882H Hot Spot Mutations on Promoter Methylation in Acute Myeloid Leukemia.

Epigenetic alterations have been observed in many hematological malignancies, including acute myeloid leukemia (AML). Many of these alterations result from mutations in DNA methyl transferase (DNMT) enzymes, disabling them to methylate target genes in a proper way. In this case-control study, we investigated the association between R882H mutation in gene and gene methylation in patients with AML. 47 AML patients and 6 controls were included in this study. After DNA extraction, amplification refractory mutation system (ARMS)-PCR was used to evaluate R882H mutations in gene. The high-resolution melting (HRM) method was used to determine the methylation changes of the gene promoter. R882H mutation was only found in 10.6% (5 out of 47) of AML patients. The frequency of gene methylation was significantly higher in patients without R882H mutations compared to patients with R882H mutations ( < 0.05). The DNMT3A R882H mutation is typically present in a minority of AML patients. Nevertheless, this mutation is associated with a reduced frequency of methylation in the DDX43 promoter region.