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

Research output: Contribution to journalArticle


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.Leukemia advance online publication, 29 March 2011; doi:10.1038/leu.2011.48.


  • Kim Theilgaard-Moench
  • J Boultwood
  • S Ferrari
  • K Giannopoulos
  • J M Hernandez-Rivas
  • A Kohlmann
  • M Morgan
  • B Porse
  • E Tagliafico
  • C M Zwaan
  • J Wainscoat
  • M M Van den Heuvel-Eibrink
  • K Mills
  • L Bullinger
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Cancer and Oncology


  • gene expression profiling, acute myeloid leukemia, myelodysplastic syndrome, microarray, connectivity MAP, drug discovery
Original languageEnglish
Pages (from-to)909-920
Issue number6
Publication statusPublished - 2011
Publication categoryResearch

Bibliographic note

The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Hematology/Transplantation (013022014), Stem Cell Center (013022011)