Clinical implications of molecular genetic aberrations in acute myeloid leukemia

  • Sebastian Scholl
  • Hans-Joerg Fricke
  • Herbert G. Sayer
  • Klaus Höffken


The role of different cytogenetic changes has been extensively evaluated in patients with acute myeloid leukemia (AML), and cytogenetic analysis of AML blasts is essential to form prognostic subgroups in order to stratify for the extent of therapy. Nevertheless, 40–45% of AML patients lack such cytogenetic markers, i.e., cytogenetically normal AML (CN-AML). In the past decade, different molecular aberrations were identified in AML and especially CN-AML can now be discriminated into certain prognostic subgroups. This review considers the latest advances to define the prognostic impact of molecular aberrations in AML and gives insights how such molecular markers can be applied for analysis of minimal residual disease. Furthermore, therapeutic implications as well as the potential role of new methodological techniques in analyzing expression patterns of AML blasts are discussed.


AML MRD Mutations Prognosis 



Cytogenetically normal acute myeloid leukemia


Cumulative incidence of relapse


Complete remission


Disease free survival


Event free survival


Gene expression profiling


Minimal residual disease


Overall survival


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Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Sebastian Scholl
    • 1
  • Hans-Joerg Fricke
    • 1
  • Herbert G. Sayer
    • 1
  • Klaus Höffken
    • 1
  1. 1.Department of Internal Medicine II (Oncology and Hematology) UniversitätsklinikumJenaGermany

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