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Blood, 28 May 2009, Vol. 113, No. 22, pp. 5617-5623. Prepublished online as a Blood First Edition Paper on March 9, 2009; DOI 10.1182/blood-2008-12-196014.
Submitted December 22, 2008
Department of Clinical Medicine, University of Insubria, Varese, Italy * Corresponding author; email: fdentali{at}libero.it.
Recent studies suggested that JAK2V617F mutation is frequent in patients with splanchnic vein thrombosis (SVT) but not in patients with other venous thromboembolic events (VTE). However, whether screening for the JAK2V617F mutation in VTE patients is justified remains unclear.
Therefore, we performed a systematic review to assess the frequency of JAK2 mutation in VTE patients and the role of JAK2V617F mutation in the diagnosis of myeloproliferative neoplasms (MPN).
MEDLINE, EMBASE databases were searched.
Two reviewers, independently, performed study selection, and extracted study characteristics. Pooled odds ratios (ORs) of case-control studies and weighted mean proportion of the prevalence of JAK2V617F mutation of uncontrolled series were calculated.
24 studies involving 3123 patients were included. Mean prevalence of JAK2 mutation was 32.7% (95%CI 25.5, 35.9%) in SVT patients. JAK2 mutation was associated with increased risk of SVT (OR, 53.98; 95% CI, 13.10, 222.45). Mean prevalence of JAK2 mutation in other VTE patients was low (range 0.88%, 2.57%). Presence of JAK2V617F mutation in SVT patients was associated with a subsequent diagnosis of MPN in many patients.
JAK2 mutation is strongly associated with SVT and routine screening of JAK2 mutation appears to be indicated in these patients.
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