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Genetic mutations in acute myeloid leukemia that influence clinical decisions

Chung, Stephen S.a,b

Current Opinion in Hematology: March 2014 - Volume 21 - Issue 2 - p 87–94
doi: 10.1097/MOH.0000000000000024
MYELOID DISEASE: Edited by Martin S. Tallman

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.

aHuman Oncology and Pathogenesis Program

bLeukemia Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York, USA

Correspondence to Stephen S. Chung, Clinical Instructor and Research Fellow, Human Oncology and Pathogenesis Program, Leukemia Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY 10065, USA. Tel: +1 212 639 7411; e-mail:

© 2014 Wolters Kluwer Health | Lippincott Williams & Wilkins