Clinical importance of cytogenetics in acute myeloid leukaemia

Best Pract Res Clin Haematol. 2001 Mar;14(1):19-47. doi: 10.1053/beha.2000.0114.


Acquired chromosome aberrations are present in the marrow of most patients with acute myeloid leukaemia (AML) at diagnosis. Cytogenetically, AML is a very heterogeneous disease with over 160 structural chromosome abnormalities observed recurrently to date. Molecular dissection of many reciprocal translocations and inversions has resulted in cloning of the genes involved in leukaemogenesis. Some recurrent aberrations and the resulting gene rearrangements, namely inv(16)/t(16;16) and CBFbeta- MYH11, t(8;21) and CBFA2-CBFA2T1, t(15;17) and PML-RARalpha, and rearrangements of band 11q23 and the MLL gene, are now used to help define distinct disease entities within AML in the new World Health Organization classification of haematological malignancies. Moreover, cytogenetic abnormalities, whether molecularly characterized or not, are among the most important, independent prognostic factors in AML, and are being used in the management of AML patients. This review presents current information on chromosome abnormalities in AML, and on associations between karyotype and clinical characteristics and outcome of AML patients.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Acute Disease
  • Chromosome Aberrations / diagnosis
  • Chromosome Aberrations / genetics
  • Chromosome Aberrations / pathology
  • Chromosome Disorders
  • Cytogenetics*
  • Humans
  • Leukemia, Myeloid / etiology
  • Leukemia, Myeloid / genetics*
  • Leukemia, Myeloid / therapy
  • Treatment Outcome