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• W2045372640 abstract "Venous thromboembolism (VTE) can be the first manifestation, or complicate the clinical course of polycythaemia vera (PV) and essential thrombocythaemia (ET). The JAK2V617F mutation is the main molecular marker of the Philadelphia-negative chronic myeloproliferative neoplasms (MPNs), occurring in the large majority of patients with PV and about half of patients with ET (Tefferi et al, 2007). A growing body of evidence supports the hypothesis that the mutation is associated with an increased risk of thrombosis in patients with PV or ET (Vannucchi et al, 2007; Dahabreh et al, 2009). Moreover, in the absence of overt signs of MPNs, JAK2 V617F mutation has been found in up to 40% of patients with splanchnic venous thrombosis (De Stefano et al, 2007; Regina et al, 2007). In contrast, the prevalence of the mutation has been reported to be low in patients with arterial thrombosis (Pardanani et al, 2008) or non-splanchnic venous thrombosis (Colaizzo et al, 2007; Regina et al, 2007; Remacha et al, 2007; Rossi et al, 2007; Pardanani et al, 2008; Ugo et al, 2008), and without overt MPNs. In particular, in six studies conducted in patients with non-splanchnic venous thrombosis the prevalence of the JAK2 V617F mutation did not exceed 1·5% (Table I). Nevertheless, the inclusion criteria in the aforementioned studies were heterogeneous, and the clinical manifestations of the patients investigated encompassed venous thrombosis of the legs as well as thrombosis of cerebral or retinal veins. In the largest study published so far, some patients reported as JAK2 V617F-positive were said to be affected by PV or ET, suggesting that the absence of overt signs of MPNs was not a pre-requisite for the investigational cohort (Ugo et al, 2008). Other studies adopted the absence of thrombophilia (Rossi et al, 2007) or the presence of recurrence (Pardanani et al, 2008) as inclusion criteria. In general, all patients with the JAK2 V617F mutation and venous thrombosis of the legs reported so far had an unprovoked clinical onset and, in the large majority of cases, suffered a recurrent event. Among the patients in which the circumstance of the first event was reported, none of the 220 with a provoked VTE had the JAK2 mutation (Table I). All the patients identified were >50 years in age, and in about half of the cases, they were >70 years old (Table I); nevertheless, one study recruited only individuals <70 years (Remacha et al, 2007), and at least two studies recruited paediatric patients (Colaizzo et al, 2007; Rossi et al, 2007), rendering the estimate of the prevalence of the JAK2 mutation uncertain among older patients with VTE. We investigated 194 adult patients (128 males, 66%) with a first unprovoked proximal venous thrombosis in a leg and/or pulmonary embolism. All thrombotic events had been diagnosed by instrumental investigation. Age <18 years, diagnosis of overt cancer or MPNs, or the presence of a first provoked thrombosis, were criteria for exclusion from the study. Provoked thromboses were those following a circumstantial risk situation, such as surgery, pregnancy and puerperium (up to 6 weeks from delivery), oral contraceptive intake, hormone replacement therapy, trauma, leg cast, prolonged bed immobilization (>10 d), and long period of travel (>8 h). The median age at the time of first VTE was 51 years (range 18–89 years); the first event was a proximal venous thrombosis of a leg in 175 patients, 69 of whom had a pulmonary embolism, and an isolated pulmonary embolism in 19. Sixty-one patients (31·4%) had a recurrent VTE. All patients were investigated for inherited and acquired thrombophilia and for the presence of the JAK2 V617F mutation as previously reported (De Stefano et al, 2007). Inherited or acquired thrombophilia was diagnosed in 101 patients (52·1%): 7·2% had inherited deficiency of antithrombin, protein C, or protein S; 20·6%F5 R506Q (factor V Leiden); 8·8%F2 G20210A; 3·1% mild hyperhomocysteinaemia; 9·8% antiphospholipid antibodies; and 2·6% had multiple abnormalities. Two patients had the JAK2 V617F mutation [1·0%, 95% confidence interval (CI) 0·2–3·6], both of whom were older than 60 years (Table I), and one case was heterozygous for F2 G20210A. The latter had a recurrent event. No JAK2 V617F mutation was found in a control group of 322 healthy individuals (208 men, median age 38 years, range 18–60 years). Our findings correspond with those previously reported (Colaizzo et al, 2007; Regina et al, 2007; Remacha et al, 2007; Rossi et al, 2007; Pardanani et al, 2008; Ugo et al, 2008), confirming a low frequency of the JAK2 V617F mutation among patients with unprovoked venous thrombosis of the legs and without overt MPNs. Nevertheless, when we restricted the analysis to the individuals ≥50 years old at the time of thrombosis, the prevalence of the mutation almost doubled, to two in 102 (1·9%, 95% CI 0·5–6·8). The rate of the mutation was even higher among the individuals ≥60 years at the time of thrombosis, being two in 59 (3·4%, 95% CI 0·9–11·5). The prevalence of the JAK2 mutation within this age range remained similar after excluding patients with thrombophilia (one in 33, 3·0%, 95% CI 0·5–15·3). We conclude that the low overall prevalence of the JAK2 mutation argues against the systematic screening of patients with VTE of common sites; however, the diagnostic yield can be more informative among older patients and could be worthwhile in this setting. At present, the striking discrepancy in the prevalence of the JAK2 V617F mutation among patients without overt MPNs between those with thrombosis of splanchnic veins and those with thrombosis of leg veins remains unexplained. Moreover, it is unknown whether identification of the JAK2 V617F mutation in the patients with venous thrombosis of splanchnic or leg veins and without overt MPNs should prompt per se special therapeutic measures, such as indefinite duration of treatment with anti-vitamin K antagonists or the use of antiplatelet or cytoreductive agents. We suggest that in such cases a careful follow-up should be warranted in order to detect an overt MPN early, whereas antithrombotic secondary prophylaxis should be pursued according to current evidence-based guidelines." @default.
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• W2045372640 title "Prevalence of theJAK2V617F mutation in patients with unprovoked venous thromboembolism of common sites and without overt myeloproliferative neoplasms" @default.
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