title: Adequate cytogenetic examination in myelodysplastic syndromes: analysis of 529 patients.
abstract: 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.
authors.affiliation: Department of Hematology and Oncology, Georg August University, Goettingen, D-37099 Göttingen, Germany. csteidl@gwdg.de
authors.forename: Christian
authors.initials: C
authors.lastname: Steidl
authors.forename: Rainer
authors.initials: R
authors.lastname: Steffens
authors.forename: Winfried
authors.initials: W
authors.lastname: Gassmann
authors.forename: Barbara
authors.initials: B
authors.lastname: Hildebrandt
authors.forename: Reinhard
authors.initials: R
authors.lastname: Hilgers
authors.forename: Ulrich
authors.initials: U
authors.lastname: Germing
authors.forename: Lorenz
authors.initials: L
authors.lastname: Trümper
authors.forename: Detlef
authors.initials: D
authors.lastname: Haase
mesh_terms: D002869:Chromosome Aberrations; D006801:Humans; D007621:Karyotyping; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D012189:Retrospective Studies