High prevalence of the JAK2 V617F mutation in patients with extrahepatic portal vein thrombosis

“…35,42,44,46,51 A few studies differentiated between patients with homozygote and heterozygote JAK2V617F mutation, 24,34,35,41,43,44,49 and 2 studies provided data on patients with homozygote mutation JAK2V617F. [24][25][26][27][28][29][30][31][32][33][34][35] Sixteen studies, 10,21,[23][24][25]30,[35][36][37]40,43,44,46,47,49,53 including a total 831 patients, assessed the prevalence of JAK2V617F mutation in patients with SVT. Eight studies, 21,27,34,37,[40][41][42]47 …”

Section: Study Characteristicsmentioning

confidence: 99%

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

Dentali

Squizzato

Brivio

et al. 2009

Blood

161

136

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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)

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“…15,19 Another study with 397 PV patients reported that thrombosis risk was not related to mutation prophile (wild type, heterozygous or homozygous). 20 Primignani and coworkers showed that JAK2 V617F mutation was found in 35% of 73 patients with portal vein thrombosis and in 40% of 20 patients with Budd Chiari syndrome. 19 Boissinot and coworkers found JAK2V617F mutation in 58% of patients with idiopathic Budd Chiari syndrome.…”

Section: Introductionmentioning

confidence: 99%

JAK 2V617F Mutation: Frequency and Relation to Clinical and Laboratory Features of BCR-ABL Negative Myeloproliferative Diseases

İlhan¹,

Karakuş²,

Şahin³

2012

UHOD

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In this study, we planned to investigate frequency of the JAK2 V617F mutation and it's relation with clinical and laboratory findings of BCR-ABL negative myeloproliferative diseases (MPD) which consist of polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). Totally 65 patients were included in the study which composed of 28 (43.1 %) PV, 29 (44 %) ET and 8 (12.3 %) IMF patients. Forty one (63%) patients were female and 24 (37%) were male. Mean age of patients was 64.02±12.42. Frequency of the JAK2V617F mutation was found in 25 (89.3%) of PV, 18 (62.1%) of ET and 2 (25%) of IMF patients. We found no difference in gender and frequency of thrombosis, constitutional symptoms, pruritus, hemorrhage, splenomegaly, bone marrow fibrosis, cytoreductive treatment requirement, arterial/venous thrombosis between JAK2 V617F mutated and unmutated PV and ET and IMF patients. When compared homozygous and heterozygous JAK2 V617F mutated PV and ET patients according to these variables, there was no significant difference. There were no statistically significant difference in Hemoglobin (Hb), hematocrit (HCT), leukocyte, lactate dehidrogenase (LDH), EPO and ferritin levels between JAK2 V617F mutated and unmutated PV and ET patients. HCT levels and leukocyte counts were significantly higher in JAK2 V617F mutated than unmutated IMF patients (p=0.046, p=0.046). Other variables were not found different. Comprehensive prospective studies are necessary for determining the relationship of the JAK2 V617F mutation with clinical and laboratory findings . 3), ET hastalar›n›n 18'inde (% 62.1) ve IMF hastalar›n›n 2'sinde (%25) olarak bulundu. JAK2 V617F mutasyonu olan ve olmayan PV ve ET ve IMF hastalar› aras›nda cinsiyet, tromboz s›kl›¤›, konstitüsyonel semptomlar, pruritus, hemoraji, splenomegali, kemik ili¤i fibrozisi, sitoredüktif tedavi ihtiyac›, arteriyel/venöz tromboz geliflimleri aç›s›ndan bir fark bulamad›k. Heterozigot ve homozigot JAK2 V617F mutasyonu olan PV ve ET hastalar›, bu parametreler aç›s›ndan karfl›laflt›r›ld›¤›nda, anlaml› bir fark yoktu (p>0.05).

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High prevalence of the JAK2 V617F mutation in patients with extrahepatic portal vein thrombosis

Cited by 15 publications

References 9 publications

Myeloproliferative neoplasms in Budd-Chiari syndrome and portal vein thrombosis: a meta-analysis

Myeloproliferative neoplasms in Budd-Chiari syndrome and portal vein thrombosis: a meta-analysis

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

JAK 2V617F Mutation: Frequency and Relation to Clinical and Laboratory Features of BCR-ABL Negative Myeloproliferative Diseases

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