Frequency of DNMT3A Mutations in Patients with Acute Leukemia in Mashhad

DNA methyltransferase3A (DNMT3A) is necessary for the adjustment of gene expression, and the mutations in the DNMT3A gene are reported in a variety of leukemia cases. DNMT3A mutations are during cancer progression and cause poor prognosis in many leukemias. Thus, this gene can be a target for new treatments. This study aimed to examine the distribution of DNMT3A mutations in Iranian acute leukemia patients.

In this study, diagnostic samples from 45 patients with de novo acute leukemia, including 22 acute myeloid leukemia (AML) patients, and 23 acute leukemia lymphoblastic (ALL) patients were screened, from April 2017 to March 2018 for the incidence of DNMT3A mutations by polymerase chain reaction and direct sequencing.

A total of 2 (9.1%) AML cases and 1 (4.34%) ALL cases were found to have the DNMT3A R882H mutation. It was found that a total of 22.7% and 21.7% of patients with AML and ALL had polymorphism rs368516543, respectively. DNMT3A mutations were considerably associated with higher age in AML patients.

The findings suggest that the DNMT3A mutations are probably a new biomarker in the early examination and treatment of acute leukemia, even though further studies are needed.