engleski

Prevalence of the JAK2-V617F mutation in patients with chronic myeloproliferative disorders

Background: Chronic myeloproliferative disorders (CMPD) are clonal hematopoetic stem cell disorders characterized by proliferation of one or more myeloid cell lineages in the bone marrow. The JAK2-V617F mutation has been recently reported in patients with this disorders which is believed to underlie growth factor hypersensitivity displayed by hematopoetic progenitors. The aim of this study was to investigate the status of JAK2-V617V mutation among myeloproliferative disorders in our patients. Methods: In total, DNA was isolated from polymorphonuclear cells of 71 patients with polycythaemia vera, essential trombocythemia or idiopathic myelofibrosis. The JAK2V617F mutation was determined using allele specific PCR as described previously (Baxter EJ et al Lancet 2005 ; 365:1054). Results: The JAK2-V617F mutation could be detected in 53 of 71 patients with CMPD (74%), or more specifically in 31 of 35 polycythemia vera patients (86%), 18 of 30 essential thrombocythemia patients (61%), and 4 of 6 idiopathic myelofibrosis (66%). The JAK2-V617 mutation was absent within the patients with secondary erythrocytosis (4 patients) or thrombocytosis (5 patients). The presence of the JAK2-V617 mutation for specific CMPD subtypes was compare with hemoglobine and hematocrite level, white blood and thrombocytes count, splenomegaly, accuracy of leukocyte alkaline phosphatase score and complication. Conclusion: The JAK2-V mutation can be frequently detected in our patients with CMPD, in accordance with literature date, and therefore should be incorporated into the initial evaluation of patients suspected with these disorders. Further analysis should be focus on contribution of JAK2-V617 mutation to determining the clinical phenotype in patients with CMPD.

JAK2-V617F; essential thrombocythemia; polycythemia vera; primary myelofibrosis.

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