Clinical correlates of JAK2 V617F point mutation in patients with chronic phase of myelofibrosis
Journal Title: Postępy Nauk Medycznych - Year 2011, Vol 24, Issue 7
Abstract
Introduction. Point mutation JAK2V617F occurs in 50-60% of patients with myelofibrosis (MF). Its clinical role is unclear and requires further studies.Material and methods. Seventy seven patients were included in the study, 41F/36M, at median age of 61 (range 19-81).Forty two patients were diagnosed with primary myelofibrosis (PMF), 16 with post-polycythemia vera myelofibrosis (post-PV MF)and 19 with post-essential thromocythemia myelofibrosis (post-ET MF). The JAK2V617F mutation was detected using allelic discrimination semi-quantitative real time polymerase chain reaction (test MutaScreenTM) from DNA of granulocytes from peripheral blood.Results. A total of 55% studied patients were JAK2-positive. The mutation was present in 50.88 and 37% of patients with PMF, post-PV MF and post-ET MF, respectively. JAK2 homozygosity was found in 57% of patients and heterozygosity in 43%. The median allele burden was 22 (range 2-96). JAK2 homozygosity was found to be seen more frequently in females, with higher white blood cell count and with tendency for higher hemoglobin concentration. There was no difference in overall survival between JAK2-positive and JAK2-negative patients as well as between homozygotes and heterozygotes.Conclusions. The presence of JAK2 mutation was demonstrated in 50-60% of patients with MF. It occurs more frequently in patients with post-PV MF. The correlation between JAK2 mutation status and overall survival was not found.
Authors and Affiliations
Agata Wieczorkiewicz-Kabut, Grzegorz Helbig, Krzysztof Woźniczka, Małgorzata Sobczyk-Kruszelnicka, Sławomira Kyrcz-Krzemień
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