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Updated: Mar 1, 2026

Transduction-Transplantation Mouse Model of Myeloproliferative Neoplasm
Published on: December 22, 2016
Thromboses and hemorrhages are common in MPN patients with high JAK2V617F allele burden
Irene Bertozzi1, Giulia Bogoni2, Giacomo Biagetti2
1Department of Medicine - DIMED, University of Padua, Via Giustiniani 2, 35128, Padua, Italy. irene.bertozzi@gmail.com.
Abstract:
The most common causes of morbidity and mortality in myeloproliferative neoplasms (MPN) are thrombotic and hemorrhagic complications. The JAK2V617F mutation, commonly found in MPN, correlates with several clinical and laboratory characteristics even if the relevance of JAK2V617F allele burden in the natural history of these diseases is unclear. In this study we searched, a relation between thrombotic and hemorrhagic complications and JAK2V617F allele burden level in MPN patients. We evaluated 253 consecutive MPN [121 essential thrombocythemia (ET), 124 polycythemia vera (PV), and 8 primary myelofibrosis (PMF)] patients in whom the JAK2V617F allele burden was available, all studied and followed (median 8.8 years) in our department. Patients were stratified accordingly to their JAK2V617F allele burden, into four quartiles (1st <25%, 2nd 26-50%, 3rd 51-75%, and 4th >75%). Significantly higher incidence of thromboses (p = 0.001) and hemorrhages (p < 0.001) during follow-up has been observed in higher quartiles when compared to lower ones. Thrombosis- and hemorrhage-free survivals were poorer in patients belonging to the highest quartile. Our data suggest that MPN patients with JAK2V617F allele burden higher than 75% have to be considered as high risk patients, being prone to develop thrombo-hemorrhagic complications during the disease course.
Insights
High JAK2V617F allele burden in myeloproliferative neoplasms (MPN) significantly increases the risk of thrombotic and hemorrhagic complications. Patients with over 75% burden face poorer outcomes, indicating a high-risk status.
Area of Science:
- Hematology
- Oncology
- Molecular Biology
Background:
- Myeloproliferative neoplasms (MPN) are associated with life-threatening thrombotic and hemorrhagic events.
- The JAK2V617F mutation is prevalent in MPN, but its correlation with disease progression and complications remains unclear.
- Understanding the role of JAK2V617F allele burden is crucial for risk stratification in MPN.
Purpose of the Study:
- To investigate the relationship between JAK2V617F allele burden and the occurrence of thrombotic and hemorrhagic complications in MPN patients.
- To determine if JAK2V617F allele burden can serve as a predictive marker for adverse outcomes in MPN.
Main Methods:
- A cohort of 253 MPN patients (121 ET, 124 PV, 8 PMF) with available JAK2V617F allele burden data was analyzed.
- Patients were stratified into four quartiles based on their JAK2V617F allele burden (<25%, 26-50%, 51-75%, >75%).
- Incidence of thromboses, hemorrhages, and survival rates were compared across the different quartiles over a median follow-up of 8.8 years.
Main Results:
- A significantly higher incidence of both thrombotic (p=0.001) and hemorrhagic (p<0.001) complications was observed in patients within the higher JAK2V617F allele burden quartiles.
- Patients in the highest quartile (>75% allele burden) exhibited poorer thrombosis- and hemorrhage-free survival.
- These findings highlight a strong association between elevated JAK2V617F allele burden and increased thrombo-hemorrhagic risk.
Conclusions:
- MPN patients with a JAK2V617F allele burden exceeding 75% should be classified as high-risk.
- Elevated JAK2V617F allele burden is a significant predictor of thrombo-hemorrhagic complications in MPN.
- This study underscores the importance of assessing JAK2V617F allele burden for personalized risk management in MPN patients.
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