Acute myeloid leukemia (AML) is a clonal disorder affecting pluripotent stem cells and is characterized by ineffective hematopoiesis. Most AML patients harbor cytogenetic and molecular defects that identify entities with peculiar biologic and clinical data and distinct therapeutic responses. Approximately 50%-60% of de novo AML and 80%-95% of secondary AML patients display chromosomal aberrations. Recently a new class of mutations affecting genes for DNA methylation and posttranslational

more »

... modification was identified in AML. These mutations frequently occur in the DNA nucleotide methyltransferase 3A gene (DNMT3A) and isocitrate dehydrogenase 1/2 gene (IDH1/2). Different studies have shown a negative impact of DNMT3A mutations on outcomes in patients with AML. The prognostic effect is known to depend on certain biological factors as well as a combination of cytogenetics and other mutations such as those in FLT3 and NPM1. In contrast, the impact of IDH1/2 mutations on prognosis is not completely understood. It appears that prognosis may depend on specific patient populations and a combination with NPM1 mutations. Moreover, a growing number of recurrent mutations in additional genes have recently been identified. Increasing evidence suggests that AML develops throughout the process of branching evolution.