International Journal of Hematology

DOI: 10.1007/s12185-012-1123-9 Pages: 153-163

Molecular markers in acute myeloid leukaemia

1. King’s College London School of Medicine, Department of Medical and Molecular Genetics

2. Guy’s Hospital, Cancer Genetics Lab, Department of Medical and Molecular Genetics, 8th Floor, Tower Wing

Correspondence to:
David Grimwade
Tel: +44-207-1883699
Fax: +44-207-1882585



An increasing number of cytogenetic and molecular genetic aberrations have been identified in acute myeloid leukaemia (AML), highlighting the biological heterogeneity of the disease. Moreover, the characterisation of specific molecular abnormalities provides the basis for targeted therapies, such as all trans retinoic acid (ATRA) and arsenic trioxide treatment in acute promyelocytic leukaemia or tyrosine kinase inhibitors in AML with FLT3 mutations. Several cytogenetic and molecular genetic changes have been shown to be prognostically relevant and have been acknowledged in the latest WHO classification of AML as separate entities. A detailed marker assessment at diagnosis is crucial for risk-stratification of AML patients, allowing the identification of those at high risk of relapse, who may benefit from early allogeneic stem cell transplantation. Finally, molecular markers are important for the detection of minimal residual disease after initial therapy and during long-term follow-up, which enables a more tailored treatment approach for individual AML patients.

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