7. Myelodysplastic Syndromes: The Role of Cytogenetic and Molecular Abnormalities for Classification and Risk Assignment

  1. Stefan Faderl MD Associate Professor and
  2. Hagop Kantarjian MD Chairman Professor
  1. Ulrich Germing MD, PhD

Published Online: 4 JAN 2011

DOI: 10.1002/9781444327359.ch7

Leukemias: Principles and Practice of Therapy

Leukemias: Principles and Practice of Therapy

How to Cite

Germing, U. (2010) Myelodysplastic Syndromes: The Role of Cytogenetic and Molecular Abnormalities for Classification and Risk Assignment, in Leukemias: Principles and Practice of Therapy (eds S. Faderl and H. Kantarjian), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444327359.ch7

Editor Information

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

Author Information

  1. Department of Hematology, Oncology and Clinical Immunology, Heinrich-Heine-University, Dusseldorf, Germany

Publication History

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

ISBN Information

Print ISBN: 9781405182355

Online ISBN: 9781444327359

SEARCH

Keywords:

  • myelodysplastic syndromes;
  • classification;
  • World Health Organization (WHO);
  • International Prognostic Scoring System (IPSS);
  • WHO-adapted Prognostic Scoring System (WPSS);
  • prognosis;
  • chromosomal abnormalities;
  • molecular findings

Summary

Cytogenetic findings in myelodysplastic syndromes (MDSs) play an important role in diagnosis, classification and prognostication, as well as clinical decision making. In particular, clonality demonstrated by chromosomal aberrations allows a diagnosis to be made. The presence of del(5q) influences the classification according to the World Health Organization (WHO) proposals. Apart from the prognostic impact of chromosomal findings, aberrations of chromosome 7, del(5q), but also the findings of a normal karyotype, influences the choice of treatment with special regard to the use of antithymocyte globulin, lenalidomide, 5-azazytidine, decitabine, and induction chemotherapy. Therefore, karyotyping at the time of diagnosis is mandatory in all patients with MDS. Molecular examination (bcr-abl; Jak2) is essential for a subset of patients, in particular in patients with mixed myeloproliferative/myelodysplastic neoplasms. Hopefully in the near future, molecular findings may also be useful in risk assessment.