Low prevalence of JAK2 V617F mutation in patients with thrombosis and normal blood counts: a retrospective impact study

AbstractTo determine the prevalence of the V617F Janus Kinase 2 (JAK2) mutation in patients with thrombosis without other biological signs of underlying myeloproliferative neoplasm (MPN) and identify associated risk factors for thrombosis. Over a 10-year period, data  were collected from patients with thrombotic events and who had also been screened for the V617FJAK2 mutation. Patients with signs of underlying MPN, such as haematocrit levels  ≥ 50% and/or platelet counts ≥ 450 × 109/L and/or splanchnic thrombosis were excluded from the study. Of 340 patients fulfilling inclusion criteria,JAK2 mutation was found in 9 (2.65%), the allele burden being at least 2% in 4 (1.1%). Upon follow-up, MPN was diagnosed in the latter 4. Univariate analysis of the whole cohort showed that age (54  ± 15 vs. 64 ± 13, p = 0.027), platelet count (317 ± 111 vs. 255 ± 75, p = 0.017), C-reactive protein level >  5 mg/L (OR 7.29, p = 0.014), and splenomegaly (OR 54.5, p = 0.0002) were significantly associated withJAK2 mutation. There was also a trend for an increased risk of cerebral venous thrombosis (OR 6.54, p  = 0.064). Logistic regression confirmed a significant association between splenomegaly andJAK2 mutation (OR 43.15 [95%CI, 3.05 –610.95], p = 0.0054). The V617FJAK2 mutation is rarely found in patients with thrombotic events without overt MPN. Splenomegaly, however, is a statistically and clinically relevant indicator...
Source: Journal of Thrombosis and Thrombolysis - Category: Hematology Source Type: research