Ryan Brown, Joanna Jasiakiewicz, Victoria Greer, Andrew Hindley, Katie McDowell, Eadaoin Devlin, Kathryn Clarke, Frances Buckley, Clare Crean, Julie McGimpsey, Robert J G Cuthbert, Nick Cunningham, Claire Arnold, Damian Finnegan, Gary Benson, Mary Frances McMullin, Mark A Catherwood
{"title":"骨髓增生性肿瘤患者中JAK2V617F可变等位基因频率与血栓事件风险之间的关系。","authors":"Ryan Brown, Joanna Jasiakiewicz, Victoria Greer, Andrew Hindley, Katie McDowell, Eadaoin Devlin, Kathryn Clarke, Frances Buckley, Clare Crean, Julie McGimpsey, Robert J G Cuthbert, Nick Cunningham, Claire Arnold, Damian Finnegan, Gary Benson, Mary Frances McMullin, Mark A Catherwood","doi":"10.1007/s11845-024-03776-5","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Myeloproliferative 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, JAK2<sup>V617F</sup>. Various studies have suggested that measuring the variable allele frequency (VAF) of JAK2<sup>V617F</sup> may provide useful insight regarding diagnosis, treatment, risks and outcomes in MPN patients. In particular, JAK2<sup>V617F</sup> has been associated with increased risk of thrombotic events, a leading cause of mortality in MPNs.</p><p><strong>Aims: </strong>The aim of this study was to determine if JAK2<sup>V617F</sup> VAF was associated with clinical outcomes in patients with MPN.</p><p><strong>Methods: </strong>JAK2<sup>V617F</sup> VAF was determined by quantitative PCR (qPCR) in a cohort of 159 newly diagnosed MPN patients, and the association of JAK2<sup>V617F</sup> VAF and risk of thrombosis was examined in this cohort.</p><p><strong>Results: </strong>We observed a significantly higher JAK2<sup>V617F</sup> VAF in PV and PMF versus ET. A significant association was observed between JAK2<sup>V617F</sup> VAF and risk of thrombotic events. When patients were stratified by thrombotic events prior to and post diagnosis, an association with JAK2<sup>V617F</sup> VAF was only observed with post diagnosis thrombotic events. Of note, these associations were not observed when looking at each MPN subtype in isolation.</p><p><strong>Conclusions: </strong>We have shown that a higher JAK2<sup>V617F</sup> VAF is associated with thrombotic events post MPN diagnosis. JAK2<sup>V617F</sup> VAF may therefore provide a valuable prognostic indicator for risk of thrombosis in MPNs.</p>","PeriodicalId":14507,"journal":{"name":"Irish Journal of Medical Science","volume":" ","pages":"2883-2888"},"PeriodicalIF":1.7000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11666684/pdf/","citationCount":"0","resultStr":"{\"title\":\"Association between JAK2<sup>V617F</sup> variable allele frequency and risk of thrombotic events in patients with myeloproliferative neoplasms.\",\"authors\":\"Ryan Brown, Joanna Jasiakiewicz, Victoria Greer, Andrew Hindley, Katie McDowell, Eadaoin Devlin, Kathryn Clarke, Frances Buckley, Clare Crean, Julie McGimpsey, Robert J G Cuthbert, Nick Cunningham, Claire Arnold, Damian Finnegan, Gary Benson, Mary Frances McMullin, Mark A Catherwood\",\"doi\":\"10.1007/s11845-024-03776-5\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Myeloproliferative 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, JAK2<sup>V617F</sup>. Various studies have suggested that measuring the variable allele frequency (VAF) of JAK2<sup>V617F</sup> may provide useful insight regarding diagnosis, treatment, risks and outcomes in MPN patients. In particular, JAK2<sup>V617F</sup> has been associated with increased risk of thrombotic events, a leading cause of mortality in MPNs.</p><p><strong>Aims: </strong>The aim of this study was to determine if JAK2<sup>V617F</sup> VAF was associated with clinical outcomes in patients with MPN.</p><p><strong>Methods: </strong>JAK2<sup>V617F</sup> VAF was determined by quantitative PCR (qPCR) in a cohort of 159 newly diagnosed MPN patients, and the association of JAK2<sup>V617F</sup> VAF and risk of thrombosis was examined in this cohort.</p><p><strong>Results: </strong>We observed a significantly higher JAK2<sup>V617F</sup> VAF in PV and PMF versus ET. A significant association was observed between JAK2<sup>V617F</sup> VAF and risk of thrombotic events. When patients were stratified by thrombotic events prior to and post diagnosis, an association with JAK2<sup>V617F</sup> VAF was only observed with post diagnosis thrombotic events. Of note, these associations were not observed when looking at each MPN subtype in isolation.</p><p><strong>Conclusions: </strong>We have shown that a higher JAK2<sup>V617F</sup> VAF is associated with thrombotic events post MPN diagnosis. JAK2<sup>V617F</sup> VAF may therefore provide a valuable prognostic indicator for risk of thrombosis in MPNs.</p>\",\"PeriodicalId\":14507,\"journal\":{\"name\":\"Irish Journal of Medical Science\",\"volume\":\" \",\"pages\":\"2883-2888\"},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2024-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11666684/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Irish Journal of Medical Science\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s11845-024-03776-5\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/8/14 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Irish Journal of Medical Science","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s11845-024-03776-5","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/8/14 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
Association between JAK2V617F variable allele frequency and risk of thrombotic events in patients with myeloproliferative neoplasms.
Background: Myeloproliferative 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.
Aims: The aim of this study was to determine if JAK2V617F VAF was associated with clinical outcomes in patients with MPN.
Methods: JAK2V617F 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.
Results: We 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.
Conclusions: We 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.
期刊介绍：
The Irish Journal of Medical Science is the official organ of the Royal Academy of Medicine in Ireland. Established in 1832, this quarterly journal is a contribution to medical science and an ideal forum for the younger medical/scientific professional to enter world literature and an ideal launching platform now, as in the past, for many a young research worker.
The primary role of both the Academy and IJMS is that of providing a forum for the exchange of scientific information and to promote academic discussion, so essential to scientific progress.
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