Prognostic impact of a suboptimal number of analyzed metaphases in normal karyotype lower-risk MDS

Leuk Res. 2018 Apr;67:21-26. doi: 10.1016/j.leukres.2018.01.022. Epub 2018 Jan 31.


Conventional karyotype is one of the most relevant prognostic factors in MDS. However, about 50% of patients with MDS have a normal karyotype. Usually, 20-25 normal metaphases (nMP) are considered to be optimal to exclude small abnormal clones which might be associated with poor prognosis. This study evaluated the impact of examining a suboptimal number of metaphases in patients recruited to the EUMDS Registry with low and intermediate-1 risk according to IPSS. Only 179/1049 (17%) of patients with a normal karyotype had a suboptimal number of nMP, defined as less than 20 metaphases analyzed. The outcome (overall survival and progression-free survival) of patients with suboptimal nMP was not inferior to those with higher numbers of analyzed MP both in univariate and multivariate analyses. For patients with an abnormal karyotype, 224/649 (35%) had a suboptimal number of MP assessed, but this did not impact on outcome. For patients with a normal karyotype and suboptimal numbers of analyzable metaphases standard evaluation might be acceptable for general practice, but we recommend additional FISH-analyses or molecular techniques, especially in candidates for intensive interventions.

Keywords: Cytogenetics; Karyotype; Lower-risk; Metaphases; Myelodysplastic syndromes; Overall survival; Progression-free survival.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormal Karyotype
  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Clone Cells / pathology
  • Disease-Free Survival
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotype*
  • Male
  • Metaphase*
  • Middle Aged
  • Myelodysplastic Syndromes / genetics*
  • Myelodysplastic Syndromes / pathology*
  • Prognosis
  • Prospective Studies
  • Risk Factors
  • Survival Analysis
  • Young Adult