Cytogenetic findings and their clinical relevance in myelofibrosis with myeloid metaplasia

Ayalew Tefferi, Ruben A. Mesa, Georgene Schroeder, Curtis A. Hanson, Chin Yang Li, Gordon W. Dewald

Research output: Contribution to journalArticlepeer-review

164 Scopus citations


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-.

Original languageEnglish (US)
Pages (from-to)763-771
Number of pages9
JournalBritish journal of haematology
Issue number3
StatePublished - 2001


  • Bone marrow
  • Cytogenetics
  • Karyotype
  • Myelofibrosis with myeloid metaplasia
  • Myeloid disorders

ASJC Scopus subject areas

  • Hematology


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