Purpose of review: A plethora of studies over the past two decades have identified many genes that are recurrently mutated in acute myeloid leukemia (AML). Although great advances have been made in understanding the role of these mutated genes in AML disease pathogenesis, to date relatively few have been demonstrated to have direct clinical relevance.
Recent findings: Genomic techniques have allowed for the identification of many mutated genes that appear to drive disease pathogenesis and prognosis in AML. Integrated analyses examining the co-occurrence of these genes in well annotated AML patient cohorts has helped to significantly refine prognostic models, allowing for a more nuanced selection of patients for optimal postremission therapies. Furthermore, there are emerging data that gene mutations may be useful to select patients for optimal doses and/or modalities of upfront AML therapy. Finally, mutated genes themselves hold promise as therapeutic targets, as supported by strong preclinical studies.
Summary: Recent advances in our knowledge of the molecular genetics of AML have significantly improved our tools for clinical decision-making and promise to identify new therapies for patients.