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Differences in JAK2V617F positive patients with and without thrombosis according to diagnosis, age, sex and V617F allele burden

The aim of this study was to find out if there is difference in frequency and type of thrombosis in JAK2 V617F positive patients according to their diagnosis, age, sex and V617F allele burden. One hundred and eighty two JAK2 V617F positive patients diagnosed with polycythemia vera (PV) N=63, essential thrombocythemia (ET) N=83, and primary myelofibrosis (PMF) N=36 were included in the study. Patients in each group were additionally divided according to sex, age at diagnosis and first thrombosis. V617F allele burden was quantified in peripheral blood granulocyte DNA by real time PCR established by Larsen et al. Br J Haematol 2007 ; 136:745. Among 182 patients observed, 66 (36%) experienced thrombosis, with arterial thrombosis being twice more frequent than venous thrombosis in all 3 studied groups. In ET group there was statistically significant difference in sex distribution (proportion of females = 0.71), p<0.001. Statistically significant difference in age at diagnosis was observed between ET and PV/PMF patients without thrombosis (p<0.001) ; the youngest patients were those in ET group. The age at diagnosis of ET patients with thrombosis (65 years, range 23-92) was statistically different compared to ET patients without thrombosis (50 years, range 21-83), p=0.002. Our study showed that V617F allele burden in patients without thrombosis was statistically significantly different between ET (17.2%, range 4.2-55.2) compared to PV (43%, range 1.7- 99.9) and PMF (37.1%, range 1.4-99.7), p<0.001. The same statistically significant difference for V617 allele burden was established in patients with thrombosis between ET patients (19%, range 1.4-84.5) and PV and PMF patients (42.5%, range 8.9-97.2 and 48.8%, range 1.6-99.8, respectively), p<0.001. Our results confirm that arterial thrombosis is more frequent than venous thrombosis in JAK2 V617F positive patients. Female sex was prevalent only in ET group. The age at diagnosis in all studied groups was similar except for ET patients without thrombosis. There was no difference in the frequency and type of thrombosis among ET, PV and PMF patients with high heterogeneity in V617F allele burden between all studied groups regardless of the occurrence of thrombosis.

age, mutation analysis, myeloproliferative disorder, thrombosis

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