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Cytogenetic Testing

Cytogenetic Analysis in Myelodysplastic Syndromes

Cytogenetic abnormalities are common in myelodysplastic syndromes (MDS) (Figure).1-3 According to the WHO 2008 guidelines, all patients with MDS should undergo complete bone marrow cytogenetic analysis at diagnosis.1-4

Figure. Frequency of cytogenetic abnormalities in MDS.1

Monitoring Changes in Cytogenetic Characteristics in MDS

In general, patients who have cytogenetic abnormalities at the time of diagnosis should be followed during treatment to detect changes in cytogenetic characteristics. Patients with a normal karyotype at diagnosis should be monitored for the development of cytogenetic abnormalities.4

Guidelines for Bone Marrow and Cytogenetic Testing

The recommended frequency of bone marrow pathology and cytogenetic testing is at least once every 6 months during treatment. Assessment of peripheral blood by fluorescent in situ hybridization (FISH) may be performed every 3 months during treatment.2,5

Changes in cytogenetic profile and bone marrow pathology can affect prognosis and treatment decisions. Treatment modification should be considered if there is evidence of:1,6

  • Clear disease progression
  • Cytogenetic progression, or
  • Complete eradication of the abnormal clone that persists for 1-3 months

Cytogenetic testing in MDS can be carried out by karyotyping or FISH.2

For further information about cytogenetic assessment in MDS:

Learn more about cytogenetic testing >


  1. Haase D, et al. Blood. 2007;110:4385-95.
  2. World Health Organization (WHO). WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. Chapter 5: Myelodysplastic Syndromes. 4th edition. 2008.
  3. Germing U, et al. Haematologica. 2004;89:905-10.
  4. Vardiman JW, et al. Blood. 2009;114 :937-951.
  5. Bowen D, Ackroyd S. Epidemiology, clinical features, and classification. In: Hellström-Lindberg E, editor. Myelodysplastic syndromes. London: Remedica; 2008.
  6. National Comprehensive Cancer Network (NCCN). Myelodysplastic Syndormes. Version 2.2014. 2014. Available at: Accessed June 6, 2014.

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