Cytogenetic findings and their clinical relevance in myelofibrosis with myeloid metaplasia

Br J Haematol. 2001 Jun;113(3):763-71. doi: 10.1046/j.1365-2141.2001.02796.x.


The prognostic significance of bone marrow cytogenetic lesions in myelofibrosis with myeloid metaplasia (MMM) was investigated in a retrospective series of 165 patients. An abnormal karyotype was demonstrated in 57% of patients. At diagnosis (n = 92), 48% of the patients had detectable cytogenetic abnormalities, and clonal evolution was frequently demonstrated in sequential studies. More than 90% of the anomalies were represented by 20q-, 13q-, +8, +9, 12p-, and abnormalities of chromosomes 1 and 7. Of these, 20q-, 13q- and +8 were the most frequent sole abnormalities, each occurring in 15-25% of the abnormal cases. Trisomy 9 and abnormalities of chromosomes 1 and 7 were equally prevalent but were usually associated with additional cytogenetic lesions. Chromosome 5 abnormalities were infrequent but were over-represented in the group of patients exposed to genotoxic therapy. In a multivariate analysis that incorporated other clinical and laboratory variables, the presence of an abnormal karyotype did not carry an adverse prognosis. Instead, +8, 12p-, advanced age and anaemia were independent prognostic determinants of inferior survival. In particular, survival was not adversely affected by the presence of either 20q- or 13q-.

MeSH terms

  • Adult
  • Age Factors
  • Aged
  • Aged, 80 and over
  • Anemia / complications
  • Anemia / genetics
  • Chromosome Aberrations / diagnosis*
  • Chromosome Aberrations / mortality
  • Chromosome Disorders
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 5
  • Chromosomes, Human, Pair 7*
  • Chromosomes, Human, Pair 9
  • Female
  • Humans
  • Karyotyping
  • Male
  • Middle Aged
  • Primary Myelofibrosis / complications*
  • Primary Myelofibrosis / genetics*
  • Primary Myelofibrosis / mortality
  • Prognosis
  • Retrospective Studies
  • Survival Analysis