JAK2V617F mutation for the early diagnosis of Ph− myeloproliferative neoplasms in patients with venous thromboembolism: a meta-analysis

Abstract

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. MEDLINE and EMBASE databases were searched. Two reviewers independently performed study selection and extracted study characteristics. Pooled odds ratios of case-control studies and weighted mean proportion of the prevalence of JAK2V617F mutation of uncontrolled series were calculated. Twenty-four studies involving 3123 patients were included. Mean prevalence of JAK2 mutation was 32.7% (95% confidence interval, 25.5%-35.9%) in SVT patients. JAK2 mutation was associated with increased risk of SVT (odds ratio, 53.98; 95% confidence interval, 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 myeloproliferative neoplasm in many patients. JAK2 mutation is strongly associated with SVT, and routine screening of JAK2 mutation appears to be indicated in these patients. (Blood. 2009;113:5617-5623)

Uses and Abuses of JAK2 and MPL Mutation Tests in Myeloproliferative Neoplasms

“…40 • JAK2V617F also occurs in other myeloid malignancies and is therefore useful as a clonal marker in the evaluation of otherwise unexplained BCR-ABL1-negative granulocytosis or monocytosis. 41 • JAK2V617F, but not JAK2 exon 12 or MPL mutations, 42 has been shown to identify occult MPN in patients with splanchnic vein thrombosis, 43 but the yield of mutation screening in the evaluation of nonsplanchnic thrombosis is very low. 44,45 • JAK2 mutations are present in virtually all patients with PV; therefore their screening is reasonable in the presence of characteristic symptoms of PV such as aquagenic pruritus or unexplained splenomegaly, even if the complete blood count picture is not suggestive of PV.…”

Diagnostik und Therapie der Polycythaemia vera im Jahre 2015

“…a.) und Thrombosen im Cerebralsinus [25][26][27][28]. Auch Mikrozirkulationsstörungen führen zu charakteristischen klinischen Symptomen (▶ Tab.…”

JAK2 (V617F) Positive Latent Myeloproliferative Neoplasm Presenting with Splanchnic Vein Thrombosis

“…They discovered that the mean prevalence of JAK2(V617F) mutation was 32.7 % in SVT patients and that this mutation was associated with increased risk of SVT (odd ratio, 53.98; 95 % CI, 13.10-222.45) and mean prevalence of this mutation is low in other VTE patients. Authors concluded that presence of JAK2 (V617F) mutation in SVT patients was associated with subsequent diagnosis of MPN in many patients and that routine screening of JAK2 (V617F) mutation appears to be indicated in SVT patients [33].…”