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Myeloid neoplasms, especially acute myeloid leukemia (AML), are characterized by abnormal proliferation of hematopoietic cells and by genomic instability with a high diversity of chromosomal and molecular abnormalities (1,2). The 2016 revised World Health Organization classification of AML and myeloid neoplasm emphasized the value of molecular genetics testing in AML risk stratification and prognosis, especially for patients with a normal karyotype (3, 4). The gene mutation data are adding an important contribution to the immunophenotype and the clinical features in defining clinicopathological relevant disease entities (3,5). The investigation of the genome profile in AML has fundamentally changed the approach of AML patients. AML patients are routinely investigated for the presence of mutations in FMS-related tyrosine kinase 3 (FLT3) and NPM1 genes. Recently some studies recommended also the DNA methyltransferase 3A (DNMT3A) gene mutation analysis at the AML diagnosis time (6-8). Roloff et al. suggested that AML cases have on average three acquired mutations at the diagnostic although the European LeukemiaNet (ELN) 2017 prognostic model considers only one gene mutation in the most of AML cases and two in a few cases (9).

The Value of FLT3, NPM1 and DNMT3A Gene Mutation Analysis in Acute Myeloid Leukemia Diagnosis