Conventional cytogenetics in myelofibrosis: Literature review and discussion

Kebede Hussein, Daniel L. Van Dyke, Ayalew Tefferi

Research output: Contribution to journalArticle

67 Citations (Scopus)

Abstract

The clinical phenotype of myelofibrosis (MF) is recognized either de novo (primary) or in the setting of polycythemia vera (post-PV) or essential thrombocythemia (post-ET). Approximately one-third of patients with primary MF (PMF) present with cytogenetic abnormalities; the most frequent are del(20q), del(13q), trisomy 8 and 9, and abnormalities of chromosome 1 including duplication 1q. Other less frequent lesions include -7/del(7q), del(5q), del(12p), +21 and der(6)t(1;6)(q21;p21.3). In general, cytogenetic abnormalities are qualitatively similar among PMF, post-ET MF and post-PV MF although their individual frequencies may differ. Based on prognostic effect, cytogenetic findings in MF are classified as either 'favorable' or 'unfavorable'. The former include normal karyotype or isolated del(20q) or del(13q) and the latter all other abnormalities. Unfavorable cytogenetic profile in both PMF and post-PV/ET MF confers an independent adverse effect on survival; it is also associated with higher JAK2V617F mutational frequency. In addition to their prognostic value, cytogenetic studies in MF ensure diagnostic exclusion of other myeloid neoplasms that are sometimes associated with bone marrow fibrosis (e.g. BCR-ABL1-positive or PDGFRB-rearranged) and also assist in specific treatment selection (e.g. lenalidomide therapy is active in MF associated with del(5q).

Original languageEnglish (US)
Pages (from-to)329-338
Number of pages10
JournalEuropean Journal of Haematology
Volume82
Issue number5
DOIs
StatePublished - May 2009

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Primary Myelofibrosis
Cytogenetics
Polycythemia Vera
Essential Thrombocythemia
Chromosome Aberrations
Platelet-Derived Growth Factor beta Receptor
Chromosomes, Human, Pair 1
Karyotype
Phenotype
Survival

Keywords

  • Cytogenetic
  • Karyotype
  • Polycythemia
  • Prognosis
  • Thrombocythemia

ASJC Scopus subject areas

  • Hematology

Cite this

Conventional cytogenetics in myelofibrosis : Literature review and discussion. / Hussein, Kebede; Van Dyke, Daniel L.; Tefferi, Ayalew.

In: European Journal of Haematology, Vol. 82, No. 5, 05.2009, p. 329-338.

Research output: Contribution to journalArticle

Hussein, Kebede ; Van Dyke, Daniel L. ; Tefferi, Ayalew. / Conventional cytogenetics in myelofibrosis : Literature review and discussion. In: European Journal of Haematology. 2009 ; Vol. 82, No. 5. pp. 329-338.
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