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Gene expression profiling in MDS and AML: potential and future avenues

Leukemia volume 25, pages 909–920 (2011)Cite this article

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Abstract

Today, the classification systems for myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) already incorporate cytogenetic and molecular genetic aberrations in an attempt to better reflect disease biology. However, in many MDS/AML patients no genetic aberrations have been identified yet, and even within some cytogenetically well-defined subclasses there is considerable clinical heterogeneity. Recent advances in genomics technologies such as gene expression profiling (GEP) provide powerful tools to further characterize myeloid malignancies at the molecular level, with the goal to refine the MDS/AML classification system, incorporating as yet unknown molecular genetic and epigenetic pathomechanisms, which are likely reflected by aberrant gene expression patterns. In this study, we provide a comprehensive review on how GEP has contributed to a refined molecular taxonomy of MDS and AML with regard to diagnosis, prediction of clinical outcome, discovery of novel subclasses and identification of novel therapeutic targets and novel drugs. As many challenges remain ahead, we discuss the pitfalls of this technology and its potential including future integrative studies with other genomics technologies, which will continue to improve our understanding of malignant transformation in myeloid malignancies and thereby contribute to individualized risk-adapted treatment strategies for MDS and AML patients.

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Acknowledgements

This work is based on the joint research activities under the framework of the European Program for Cooperation in Science and Technology (COST, Action BM0801, WG1) and the European LeukemiaNet funded by the 6th Framework Program of the European Community (WP13 Gene Profiling).

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  1. K Mills and L Bullinger: These authors contributed equally to this work.

Authors and Affiliations

  1. Biotech Research and Innovation Centre & Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

    K Theilgaard-Mönch & B Porse

  2. Department of Hematology, Lund University Hospital, Lund University, Lund, Sweden

    K Theilgaard-Mönch

  3. Nuffield Department of Clinical Laboratory Sciences, LRF Molecular Haematology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK

    J Boultwood & J Wainscoat

  4. Department of Biomedical Sciences University of Modena and Reggio Emilia, Modena, Italy

    S Ferrari & E Tagliafico

  5. Experimental Hematooncology Department, Medical University of Lublin, Lublin, Poland

    K Giannopoulos

  6. Servicio de Hematologia, Hospital Universitario de Salamanca and IBMCC, Centro de Investigacion del Cancer, Universidad de Salamanca-CSIC, Salamanca, Spain

    J M Hernandez-Rivas

  7. MLl munich leukemia laboratory, Munich,

    A Kohlmann

  8. Department of Microarrays and Next-Generation Sequencing, Munich, Germany

    A Kohlmann

  9. Department of Hematology, Hemostasis, Oncology and Stem Cell Transplantation, Hannover Medical School, Hannover, Germany

    M Morgan

  10. Erasmus MC—Sophia Children's Hospital, Erasmus University, Rotterdam, The Netherlands

    C M Zwaan & M M Van den Heuvel-Eibrink

  11. Center for Cancer Research & Cell Biology, Queen's University Belfast, Belfast, Northern Ireland

    K Mills

  12. Department of Internal Medicine III, University Hospital Ulm, Ulm, Germany

    L Bullinger

Authors
  1. K Theilgaard-Mönch
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  2. J Boultwood
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  3. S Ferrari
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  4. K Giannopoulos
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  5. J M Hernandez-Rivas
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  6. A Kohlmann
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  7. M Morgan
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  8. B Porse
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  9. E Tagliafico
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  10. C M Zwaan
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  11. J Wainscoat
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  12. M M Van den Heuvel-Eibrink
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  13. K Mills
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  14. L Bullinger
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Corresponding author

Correspondence to L Bullinger.

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The authors declare no conflict of interest.

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Theilgaard-Mönch, K., Boultwood, J., Ferrari, S. et al. Gene expression profiling in MDS and AML: potential and future avenues. Leukemia 25, 909–920 (2011). https://doi.org/10.1038/leu.2011.48

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  • DOI: https://doi.org/10.1038/leu.2011.48

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