The role of cytogenetic abnormalities as a prognostic marker in primary myelofibrosis: applicability at the time of diagnosis and later during disease course

Blood. 2009 Apr 30;113(18):4171-8. doi: 10.1182/blood-2008-09-178541. Epub 2009 Jan 8.


Although cytogenetic abnormalities are important prognostic factors in myeloid malignancies, they are not included in current prognostic scores for primary myelofibrosis (PMF). To determine their relevance in PMF, we retrospectively examined the impact of cytogenetic abnormalities and karyotypic evolution on the outcome of 256 patients. Baseline cytogenetic status impacted significantly on survival: patients with favorable abnormalities (sole deletions in 13q or 20q, or trisomy 9 +/- one other abnormality) had survivals similar to those with normal diploid karyotypes (median, 63 and 46 months, respectively), whereas patients with unfavorable abnormalities (rearrangement of chromosome 5 or 7, or > or = 3 abnormalities) had a poor median survival of 15 months. Patients with abnormalities of chromosome 17 had a median survival of only 5 months. A model containing karyotypic abnormalities, hemoglobin, platelet count, and performance status effectively risk-stratified patients at initial evaluation. Among 73 patients assessable for clonal evolution during stable chronic phase, those who developed unfavorable or chromosome 17 abnormalities had median survivals of 18 and 9 months, respectively, suggesting the potential role of cytogenetics as a risk factor applicable at any time in the disease course. Dynamic prognostic significance of cytogenetic abnormalities in PMF should be further prospectively evaluated.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Biomarkers / metabolism*
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 13 / genetics
  • Chromosomes, Human, Pair 17 / genetics
  • Chromosomes, Human, Pair 20 / genetics
  • Chromosomes, Human, Pair 5 / genetics
  • Chromosomes, Human, Pair 7 / genetics
  • Cohort Studies
  • Disease Progression
  • Female
  • Humans
  • Karyotyping
  • Male
  • Middle Aged
  • Primary Myelofibrosis / diagnosis*
  • Primary Myelofibrosis / genetics*
  • Prognosis
  • Retrospective Studies
  • Risk Factors
  • Survival Rate
  • Time Factors
  • Trisomy
  • Young Adult


  • Biomarkers