6. Myelodysplastic Syndromes: Pathophysiology

  1. Stefan Faderl MD Associate Professor and
  2. Hagop Kantarjian MD Chairman Professor
  1. Steve D. Gore MD Professor1 and
  2. Erica Warlick MD Assistant Professor2

Published Online: 4 JAN 2011

DOI: 10.1002/9781444327359.ch6

Leukemias: Principles and Practice of Therapy

Leukemias: Principles and Practice of Therapy

How to Cite

Gore, S. D. and Warlick, E. (2010) Myelodysplastic Syndromes: Pathophysiology, in Leukemias: Principles and Practice of Therapy (eds S. Faderl and H. Kantarjian), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444327359.ch6

Editor Information

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

Author Information

  1. 1

    Sidney Kimmel Comprehensive Cancer Center Johns Hopkins Baltimore, Maryland, USA

  2. 2

    Division of Hematology, Oncology, and Transplantation Department of Medicine University of Minnesota Minneapolis, Minnesota, USA

Publication History

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

ISBN Information

Print ISBN: 9781405182355

Online ISBN: 9781444327359



  • myelodysplastic syndromes;
  • pathogenesis;
  • apoptosis;
  • epigenetic modulation


Myelodysplastic syndromes (MDS) describe a heterogeneous and complex group of clonal bone marrow failure disorders characterized by ineffective hematopoiesis, peripheral cytopenias, morphologic dysplasia, and cellular dysfunction, often leading to increased risk of infection and transfusion requirements. They typically represent diseases of the elderly, and, while sometimes linked to known environmental exposures, are usually characterized as idiopathic. Understanding MDS pathogenesis is crucial to the development of biologically targeted therapies. This chapter explores MDS pathogenesis theories in terms of (1) the MDS cell of origin; (2) genetic alterations within the cell of origin; (3) alterations in bone marrow microenvironment and apoptosis; (4) alterations in immune surveillance; and (5) functional cellular abnormalities.