Adequate cytogenetic examination in myelodysplastic syndromes: analysis of 529 patients

In myelodysplastic syndromes (MDS), the karyotype is one of the most significant prognostic markers with profound impact on differential diagnosis and therapeutic decisions. In a retrospective study, we examined karyotypes of bone marrow specimens of an oligocentric cohort comprising 529 patients wi...

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Bibliographic Details
Published in:Leukemia research 2005-09, Vol.29 (9), p.987-993
Main Authors: Steidl, Christian, Steffens, Rainer, Gassmann, Winfried, Hildebrandt, Barbara, Hilgers, Reinhard, Germing, Ulrich, Trümper, Lorenz, Haase, Detlef
Format: Article
Language:English
Subjects:
Chromosome Aberrations
Cytogenetics
Diagnostic accuracy
Humans
Karyotyping
MDS
Metaphase
Myelodysplastic Syndromes - genetics
Prognosis
Retrospective Studies
Sensitivity
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Summary:In myelodysplastic syndromes (MDS), the karyotype is one of the most significant prognostic markers with profound impact on differential diagnosis and therapeutic decisions. In a retrospective study, we examined karyotypes of bone marrow specimens of an oligocentric cohort comprising 529 patients with MDS to address the question how many metaphases need to be analyzed to detect even small cell clones with an appropriate expenditure. We found a statistically significant difference of the frequency of normal karyotypes in the patient group with 19 or less analyzed metaphases compared to the group with 20 or more metaphases analyzed (56% versus 47%, p = 0.041). Furthermore, we demonstrate that the analysis of 25 or more metaphases can further improve the sensitivity of karyotype analysis and leads to the identification of additional clinically relevant abnormal clones or subclones in a substantial proportion of patients. In summary, our data suggest the examination of at least 20 metaphases in MDS.
ISSN:0145-2126
1873-5835
DOI:10.1016/j.leukres.2005.01.019