Current Hematologic Malignancy Reports

, Volume 9, Issue 2, pp 93–99

Recent Discoveries in Molecular Characterization of Acute Myeloid Leukemia

Acute Leukemias (F Ravandi, Section Editor)

DOI: 10.1007/s11899-014-0200-y

Cite this article as:
Khasawneh, M.K. & Abdel-Wahab, O. Curr Hematol Malig Rep (2014) 9: 93. doi:10.1007/s11899-014-0200-y


Acute myeloid leukemia (AML) is a clinically heterogeneous disease, yet it is one of the most molecularly well-characterized cancers. Risk stratification of patients currently involves determination of the presence of cytogenetic abnormalities in combination with molecular genetic testing in a few genes. Several new recurrent genetic molecular abnormalities have recently been identified, including TET2, ASXL1, IDH1, IDH2, DNMT3A, and PHF6. Mutational analyses have identified that patients with DNMT3A or NPM1 mutations or MLL translocation have improved overall survival with high-dose chemotherapy. Mutational profiling can refine prognostication, particularly for patients in the intermediate-risk group or with a normal karyotype. CD25 expression status improves prognostic risk classification in AML independent of established biomarkers. Biomarkers such as 2- hydroxyglutarate in IDH1/2-mutant AML patients predict patient responses and minimal residual disease. These recent discoveries are being incorporated into our existing molecular risk stratification as well as the exploration of new therapeutics directed to these molecular targets.


AMLAcute myeloid leukemiaMolecular geneticsPrognosisBiomarkersMutational profilingTargeted therapy

Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  1. 1.Edwards Comprehensive Cancer Center, Department of Oncological SciencesMarshall University School of MedicineHuntingtonUSA
  2. 2.Human Oncology and Pathogenesis Program and Leukemia Service, Memorial Sloan-Kettering Cancer CenterWeill Cornell Medical CollegeNew YorkUSA