Korean J Med.  2009 Feb;76(2):143-150.

Significance of cytogenetics in myelodysplastic syndromes

  • 1Department of Laboratory Medicine, The Catholic University of Korea College of Medicine, Seoul, Korea.


Myelodysplastic syndromes (MDS) are characterized by ineffective hematopoiesis presenting with peripheral cytopenias in combination with a hyperplastic bone marrow and an increased risk of evolution to acute myeloid leukemia (AML). Cytogenetic abnormalities are major determinants in the pathogenesis, diagnosis, and prognosis, and, increasingly, the basis for selection of drugs in individual patients with MDS. Chromosomal abnormalities are detected in 40~70% of patients with de novo MDS and in up to 80-95% of patients with therapy-related MDS. Frequent cytogenetic abnormalities are -5/del (5q), -7/del (7q), +8, del (20q), -Y, del (17p), and del (12p). These chromosome abnormalities are independent prognostic factors predicting overall survival and the likelihood of progression in AML. Continuing studies have been performed and they added and changed the significance of cytogenetic abnormalities. Moreover, molecular cytogenetic method, such as fluorescence in situ hybridization, has enriched the understanding of the biology of MDS and to be complement to the information. The aim of this article is to review the clinical significance of cytogenetic abnormalities in MDS.


Myelodysplastic syndrome; Cytogenetics; Karyotype
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