Clinical features and outcomes of JAK2 V617F-positive polycythemia vera and essential thrombocythemia according to the JAK2 V617F allele burden
A-Jin Lee1, Sang-Gyung Kim1, Jun Yeb Nam2, Jaehum Yun2, Hun-Mo Ryoo2, Sung Hwa Bae2
1Department of Laboratory Medicine, 2Division of Hematology/Oncology, Department of Internal Medicine, Daegu Catholic University Hospital, Daegu Catholic University School of Medicine, Daegu, Korea
Correspondence to: Sung Hwa Bae, M.D., Ph.D
Division of Hematology/Oncology, Department of Internal Medicine, Daegu Catholic University Hospital, Daegu Catholic University School of Medicine, 33, Duryugongwon-ro 17-gil, Nam-gu, Daegu 42472, Korea
E-mail: sunghwa@cu.ac.kr
* Nam JY and Yun J are on military service as an army physician of obligation at the time of submission
Published online: November 22, 2021.
© The Korean Journal of Hematology. All rights reserved.

Abstract
Background: JAK2 mutation status is a well-known risk factor for thrombosis in patients with myeloproliferative neoplasms. However, the clinical usefulness of JAK2 allele burden is under investigation.
Methods: We retrospectively evaluated the impact of the JAK2 V617F allele burden on clinical characteristics and outcomes of JAK2 V617F-positive polycythemia vera (PV) and essential thrombocythemia (ET). The JAK2 V617F allele burden was measured using sequencing.
Results: Altogether, 127 patients with JAK2 V617F mutation (PV, N=61; ET, N=66) were included in this study. JAK2 V617F allele burdens were positively correlated with white blood cell counts, hemoglobin values, lactate dehydrogenase levels, and platelet counts. The median values of JAK2 V617F allele burden in patients with PV and ET were 58% and 30%, respectively. A JAK2 V617F allele burden of ≥30%, older age, and a higher hemoglobin level were risk factors for thrombotic events in ET. In patients with PV, older age was the only thrombotic risk factor. The 8-year probabilities of overall survival (OS) were 82.9% in all patients. A high JAK2 V617F allele burden (≥58%) was associated with poor OS in patients with PV. For the patients with ET, the difference in 8- year OS based on the JAK2 V617F allele burden was not significant.
Conclusion: The JAK2 V617F allele burden was correlated with hematologic parameters and clinical outcomes. Assessing the JAK2 V617F allele burden can be helpful in predicting the thrombotic risk and disease course in patients with JAK2 V617F-positive PV and ET.
Keywords: JAK2, Thrombosis, Polycythemia, Thrombocythemia, Essential thrombocythemia, Polycythemia vera


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