• Ir J Med Sci · Aug 2024

    Association between JAK2V617F variable allele frequency and risk of thrombotic events in patients with myeloproliferative neoplasms.

    • Ryan Brown, Joanna Jasiakiewicz, Victoria Greer, Andrew Hindley, Katie McDowell, Eadaoin Devlin, Kathryn Clarke, Frances Buckley, Clare Crean, Julie McGimpsey, CuthbertRobert J GRJGHaematology, Belfast City Hospital, BHSCT, Belfast, Northern Ireland, UK., Nick Cunningham, Claire Arnold, Damian Finnegan, Gary Benson, Mary Frances McMullin, and Mark A Catherwood.
    • Haematology, Belfast City Hospital, BHSCT, Belfast, Northern Ireland, UK.
    • Ir J Med Sci. 2024 Aug 14.

    BackgroundMyeloproliferative neoplasms (MPNs) are a group of chronic disorders of the bone marrow characterised by the overproduction of clonal myeloid stem cells. The most common driver mutation found in MPNs is a point mutation on exon 14 of the JAK2 gene, JAK2V617F. Various studies have suggested that measuring the variable allele frequency (VAF) of JAK2V617F may provide useful insight regarding diagnosis, treatment, risks and outcomes in MPN patients. In particular, JAK2V617F has been associated with increased risk of thrombotic events, a leading cause of mortality in MPNs.AimsThe aim of this study was to determine if JAK2V617F VAF was associated with clinical outcomes in patients with MPN.MethodsJAK2V617F VAF was determined by quantitative PCR (qPCR) in a cohort of 159 newly diagnosed MPN patients, and the association of JAK2V617F VAF and risk of thrombosis was examined in this cohort.ResultsWe observed a significantly higher JAK2V617F VAF in PV and PMF versus ET. A significant association was observed between JAK2V617F VAF and risk of thrombotic events. When patients were stratified by thrombotic events prior to and post diagnosis, an association with JAK2V617F VAF was only observed with post diagnosis thrombotic events. Of note, these associations were not observed when looking at each MPN subtype in isolation.ConclusionsWe have shown that a higher JAK2V617F VAF is associated with thrombotic events post MPN diagnosis. JAK2V617F VAF may therefore provide a valuable prognostic indicator for risk of thrombosis in MPNs.© 2024. The Author(s).

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