J Am Heart Assoc. 2026 Sep 24:e050497. doi: 10.1161/JAHA.126.050497. Online ahead of print.
ABSTRACT
Recent evidence suggests the JAK2V617F mutation may confer an elevated risk of ischemic stroke, likely mediated by systemic inflammation, abnormal cell activation, and endothelial dysfunction. The JAK2V617F mutation is an acquired driver mutation reported in up to 11.3% of patients with ischemic stroke in a recent Danish case-control study. It is the main driver mutation in Philadelphia-negative myeloproliferative neoplasms and even in the absence of overt myeloproliferative neoplasm, an increasingly recognized risk factor for cardiovascular disease. In this review, we summarize current knowledge on the biological role of the JAK2V617F mutation in thrombosis, its contribution to cerebrovascular risk, and the emerging relevance of JAK2V617F in stroke neurology. Current knowledge underscores the value of JAK2V617F testing in stroke patients for early detection of myeloproliferative neoplasms or pre-myeloproliferative neoplasm states and personalized secondary stroke prevention. Further studies are needed to refine risk stratification, evaluate targeted interventions, and determine the clinical utility of integrating JAK2V617F mutation profiling into stroke care.
PMID:42786637 | DOI:10.1161/JAHA.126.050497