High Prevalence of the JAK2V617F Mutation in Patients With Acute Coronary Syndrome

The JAK2V617F mutation is a driver mutation in Philadelphia-negative chronic myeloproliferative neoplasms (MPNs), including polycythemia vera, essential thrombocythemia, and myelofibrosis. Recent studies have revealed a significant prevalence of JAK2V617F as clonal hematopoiesis of indeterminate potential (CHIP) in the general population, particularly in individuals over 50 years. CHIP-JAK2V617F carriers exhibit increased mortality, driven by cardiovascular diseases and cancer. Given the prothrombotic and inflammatory nature of JAK2V617F, we investigated its prevalence in patients with acute coronary syndrome (ACS).

We screened 526 consecutive ACS patients for the JAK2V617F mutation using sensitive droplet digital PCR (ddPCR) and allele-specific real-time quantitative PCR (RQPCR). Clinical and laboratory data were analyzed to assess associations.

The JAK2V617F mutation was detected in 6.1% (32/526) of ACS patients, significantly higher than the general population prevalence (3.1%).

Our findings suggest that JAK2V617F may contribute to ACS pathogenesis through prothrombotic and inflammatory mechanisms. Screening for JAK2V617F in high-risk cardiovascular patients could identify individuals who may benefit from targeted therapies.