JAK2V617F mutation for the early diagnosis of Ph− myeloproliferative neoplasms in patients with venous thromboembolism: a meta-analysis
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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.
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A meta-analysis reported a JAK2 mutation prevalence of 32.7% (95% CI 25.5-35.9%) in patients with acute mesenteric venous thrombosis.
“A meta-analysis reported a JAK2 mutationprevalenceof32.7%(95%CI25.5 e 35.9%)inpatients with AMVT compared with approximately 1% in patients with VTEinothersites, and found a strong association between JAK2 mutation and MVT (OR 53.9, 95% CI 13.1 e 222.5). 214”
A meta-analysis found a strong association between JAK2 mutation and mesenteric venous thrombosis (OR 53.9, 95% CI 13.1-222.5).
“A meta-analysis reported a JAK2 mutationprevalenceof32.7%(95%CI25.5 e 35.9%)inpatients with AMVT compared with approximately 1% in patients with VTEinothersites, and found a strong association between JAK2 mutation and MVT (OR 53.9, 95% CI 13.1 e 222.5). 214”
The JAK2 mutation is diagnostic of myeloproliferative diseases and appears to be linked to the development of acute mesenteric venous thrombosis.
“The JAK2 mutation is diagnostic of myeloproliferative diseases and appears to be linked to the development of AMVT.”
52% (95% CI 38-67%) of patients with mesenteric venous thrombosis and JAK2 mutation were diagnosed with a myeloproliferative disease during follow up, with mesenteric venous thrombosis being the first manifestation of the underlying condition.
“Moreover, 52% (95% CI 38 e 67%) of patients with MVT and JAK2 mutation were diagnosed with a myeloproliferative disease during follow up, with MVT being the first manifestation of the underlying condition. 214”
Acute mesenteric venous thrombosis is a common first clinical manifestation in patients with newly diagnosed myeloproliferative diseases such as polycythemia vera or essential thrombocytosis.
“AMVT is a common first clinical manifestation in patients with newly diagnosed myeloproliferative diseases such as polycythemia vera or essential thrombocytosis.”
A meta-analysis reported a JAK2 mutation prevalence of approximately 1% in patients with venous thromboembolism in other sites.
“A meta-analysis reported a JAK2 mutationprevalenceof32.7%(95%CI25.5 e 35.9%)inpatients with AMVT compared with approximately 1% in patients with VTEinothersites, and found a strong association between JAK2 mutation and MVT (OR 53.9, 95% CI 13.1 e 222.5). 214”
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- Authors
- Dentali, F., Squizzato, A., Brivio, L., Appio, L., Campiotti, L., Crowther, M., Grandi, A. M., & Ageno, W.
- Affiliations
- University of Insubria (IT)
- McMaster University (CA)
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2009-05-28
- Volume
- 113
- Issue
- 22
- Pages
- 5617-5623
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2000782581
- Cited by
- 176
- References
- 60
- Citations by year
- 2026: 6 · 2025: 5 · 2024: 9 · 2023: 7 · 2022: 6 · 2021: 7 · 2020: 12 · 2019: 7 · 2018: 6 · 2017: 10 · 2016: 8 · 2015: 12 · 2014: 12 · 2013: 13 · 2012: 18
- FWCI
- 2.21
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Blood (publishedVersion)
- PubMed (publishedVersion)
- IrInSubria (University of Insubria) (submittedVersion)
- Topics
- Health Sciences › Medicine › Genetics › Myeloproliferative Neoplasms: Diagnosis and Treatment
- Health Sciences › Medicine › Internal Medicine › Venous Thromboembolism Diagnosis and Management
- Health Sciences › Medicine › Hematology › Platelet Disorders and Treatments
- Keywords
- JAK2 V617F mutation, myeloproliferative neoplasms, venous thromboembolism, splanchnic vein thrombosis, mutation detection, early diagnosis, prevalence
- MeSH terms
- Algorithms, Female, Gene Frequency, Humans, Male, Myeloproliferative Disorders, Neoplasms, Phenylalanine, Philadelphia Chromosome, Biomarkers, Tumor, Valine, Case-Control Studies, Point Mutation, Amino Acid Substitution, Janus Kinase 2, Venous Thromboembolism, Early Detection of Cancer
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