Mutation of the DNMT3A and IDH1/2 genes in Iranian acute myeloid leukemia patients with normal karyotype (CN-AML): association with other gene mutation and clinical and laboratory characteristics

Abstract

Mutation of the genes encoding DNA methyltransferase 3A (DNMT3A) and isocitrate dehydrogenase 1/2 (IDH 1/2) is among the most commonly occurring mutation found in acute myeloid leukemia (AML) patients. This study was purposed to investigate the frequency of DNMT3A and IDH1/2 gene mutation and the clinical features of Iranian cytogenetically normal acute myeloid leukemia (CN-AML) patients harboring these mutations. Thirty-nine CN-AML patients were recruited at the time of diagnosis. PCR followed by direct sequencing was used to detect the mutations of DNMT3A (R882), IDH1 (R132), and IDH2 (R140 and R172). The results showed that of all CN-AML patients, DNMT3A, IDH1, and IDH2 mutations were observed in five (12.8%), five (12.8%), and five (13.2%) patients, respectively. In addition, the most frequent DNMT3A, IDH1, and IDH2 mutant types were R882C, R132C, and R140Q types, respectively. Our results also described that both DNMT3A and IDH1/2 mutations were not associated with significant change in hemoglobin (Hb) levels, white blood cell (WBC) and platelet count, and bone marrow blast percentage (P > 0.05). There was also no significant difference in the mutation status of DNMT3A and IDH1/2 genes regarding age and gender (P > 0.05). A positive relationship was observed between the co-occurrence of DNMT3A and IDH2 (P = 0.021) and FLT3-ITD and NPM1 (P = 0.044). Increasing sample size and longer follow-up of patients may provide additional data to understand the prognostic significance of the DNMT3A and IDH1/2 mutation in the management of CN-AML patients.

http://ift.tt/2IEIRr0