JAK2-V617F mutation in Moroccan patients with myeloproliferative disorders: contribution, diagnosis and therapeutic prospects

Pathol Biol (Paris). 2011 Aug;59(4):e89-92. doi: 10.1016/j.patbio.2009.06.005. Epub 2009 Nov 24.

Abstract

Aims: The JAK2 V617F is a recent discovery. The implication of this mutation in the pathogenesis of the myeloproliferative disorders (MPDs) is currently confirmed. Our study is the first to be interested in the status of the JAK2 V617F mutation among myeloproliferative disorders patients in Morocco.

Patients and methods: Our study focused on 70 non-CML MPD patients, attending several departments of hematology and internal medicine across Morocco. The mutation was detected by allele-specific PCR (AS-PCR).

Results: The V617F JAK2 mutation incidence in polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis are respectively 89.47%, 62.5% and 33.33%. The V617F JAK2 mutation was absent within the patients with secondary erythrocytosis or thrombocytosis. We also found that the patients carrying the mutation displayed a leucocytosis and higher levels of haemoglobin and hematocrit than mutation-negative patients.

Conclusion: Our study is the first to assess the status of the JAK2 V617F mutation in patients with MPDs in Morocco. However, our data seem to confirm that the JAK2 V617F mutation is rather uncommon in myeloid malignancies other than the classical BCR/ABL MPD negative.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Female
  • Gene Frequency
  • Humans
  • Janus Kinase 2 / genetics*
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics
  • Male
  • Middle Aged
  • Morocco
  • Mutation / genetics*
  • Myeloproliferative Disorders / diagnosis*
  • Myeloproliferative Disorders / genetics*
  • Myeloproliferative Disorders / therapy

Substances

  • JAK2 protein, human
  • Janus Kinase 2