.png){kind=icon}
.png){kind=icon}
Return
Polycythaemia vera
.png){kind=icon}
PRE
AI
DOI：10.1038/s41572-025-00608-3.png)
.png){kind=icon}
Original request for help.png){kind=icon}
Share.png){kind=icon}
Save
Abstract
En 中文
Polycythaemia vera (PV) is a haematological malignancy in the myeloproliferative neoplasm family. PV is typically characterized by erythrocytosis and often leukocytosis and thrombocytosis1. Clinical features include reduced life expectancy due to hazards of thrombosis (often in atypical sites), haemorrhage and transformation to myelofibrosis and less frequently to a form of acute myeloid leukaemia called blast phase. Almost two decades ago, the JAK2V617F mutation in exon 14 of JAK2 was described, and is known to be present in more than 95% of patients with PV. Testing for the JAK2V617F mutation is used in the diagnosis of PV, and the quantity of the mutation (that is, the variant allele frequency) is linked to prognosis and the risk of complications. As such, reduction of JAK2V617F variant allele frequency is currently being evaluated as a treatment target. Recommendations for PV treatment include control of vascular risk factors, therapeutic phlebotomy and low-dose aspirin in all patients. Currently, patients at higher risk of thrombosis (aged over 60 years and/or with a history of thrombosis) are offered cytoreductive agents. Hydroxyurea or interferons remain the preferred first-line cytoreductive agents, with the JAK1 and JAK2 inhibitor, ruxolitinib, currently approved for the treatment of patients who are resistant to, or intolerant of, hydroxyurea. Future recommendations might be to treat the majority of patients with these agents as long-term benefits of treatment begin to emerge. Polycythaemia vera is a member of the myeloproliferative neoplasms family of disorders and is characterized by an abnormal increase in red blood cell mass that is driven by activating mutations in JAK2. Harrison et al. outline the current understanding in epidemiology, mechanisms, diagnosis and treatment of this chronic myeloproliferative disorder and discuss future research directions.
Journal
N
IF:
60.6
Papers:
646
Citations:
3.8W
View more organizations