Research On DNMT3A Gene Mutation In Patients With Acute Myeloid Leukemia

Objectives To detect the mutations of the DNMT3A gene in adult de novoacute myeloid leukemia (AML), and to provide evidence for stratificationtreatment, prognosis evaluation and targeted therapy.Methods1. Mononuclear cell were collected from bone marrow or peripheral bloodof110cases of patients with acute myeloid leukemia, and the genomicDNA was extracted.2. DNMT3A gene exon23was amplified by using PCR,and verifyed PCRproducts by agarose gel electrophoresis, the PCR products were directlysequenced.Results1. DNMT3A mutations were detected in7of110(6.4%) AML, mutationtypes were heterozygous mutations, including4cases of R882H missensemutation,2cases of R882P missense mutation,1case of A884A synonymous mutations.2. Compared with DNMT3A wild type, the patients with DNMT3Amutations had older age, and high white blood cell count in periph-eral blood.3. In7cases of DNMT3A mutations patients,3patients combined withFLT3-ITD mutationConclusions1. DNMT3A mutations in de novo AML patients was6.4%in our research.Confirmed DNMT3A mutations hotspots for R882residue, commonmutations type was a hybrid type of missense mutation.2. DNMT3A mutations in patients with older age, high white blood cellcount.3. DNMT3A mutations often combined with FLT3-ITD mutation.