9. Presentation and Diagnosis: Novel Molecular Markers and their Role in the Prognosis and Therapy of Acute Myeloid Leukemia

  1. Stefan Faderl MD Associate Professor and
  2. Hagop Kantarjian MD Chairman Professor
  1. Wolfgang Kern MD1,
  2. Torsten Haferlach1,
  3. Susanne Schnittger2,
  4. Claudia Haferlach1 and
  5. Ulrike Bacher2

Published Online: 4 JAN 2011

DOI: 10.1002/9781444327359.ch9

Leukemias: Principles and Practice of Therapy

Leukemias: Principles and Practice of Therapy

How to Cite

Kern, W., Haferlach, T., Schnittger, S., Haferlach, C. and Bacher, U. (2010) Presentation and Diagnosis: Novel Molecular Markers and their Role in the Prognosis and Therapy of Acute Myeloid Leukemia, in Leukemias: Principles and Practice of Therapy (eds S. Faderl and H. Kantarjian), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444327359.ch9

Editor Information

  1. Department of Leukemia, University of Texas, MD Anderson Cancer Center, Houston, TX, USA

Author Information

  1. 1

    MLL Munich Leukemia Laboratory, Munich, Germany

  2. 2

    Department of Stem Cell Transplantation, University of Hamburg, Hamburg, Germany

Publication History

  1. Published Online: 4 JAN 2011
  2. Published Print: 26 NOV 2010

ISBN Information

Print ISBN: 9781405182355

Online ISBN: 9781444327359

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Keywords:

  • Acute myeloid leukemia (AML);
  • subtypes;
  • molecular markers;
  • polymerase chain reaction (PCR);
  • prognosis;
  • nucleophosmin (NPM1) mutations;
  • FLT3 internal tandem duplications (FLT3-ITD);
  • minimal residual disease (MRD)

Summary

Owing to the clinical heterogeneity of acute myeloid leukemia (AML), the definition of genetic markers for subclassification and prognostic predictions gains increasing importance. Molecular techniques allow subclassification in >80% of normal karyotype cases. The respective mutations span a wide range, which includes, for example, mutations of receptor tyrosine kinases, as in cases of the prognostically adverse FLT3-LM/ITD, mutations of proto-oncogenes, or of transcription factors. The description of the favorable nucleophosmin (NPM1) mutations in 45% of all normal karyotype cases was a further breakthrough. Also, combinations of molecular markers have to be considered, as prognosis is worsened, for example, in cases of a coincidence of the NPM1 and FLT3 internal tandem duplications (FLT3-ITD). Thus, molecular analyses are helpful to optimize the treatment intensity. In addition, some of these novel markers might be useful for minimal residual disease diagnostics, which is evaluated for the NPM1 mutations at this time.