{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T16:00:44Z","timestamp":1753891244674,"version":"3.41.2"},"reference-count":35,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,11,7]],"date-time":"2024-11-07T00:00:00Z","timestamp":1730937600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>Myelofibrosis, which includes primary myelofibrosis (PMF) and secondary myelofibrosis (SMF), can exhibit cytopenic features associated with poor outcomes; however, the underlying mechanisms are unclear. Moreover, characterized by its aggressive nature and limited therapeutic options, myelofibrosis poses a major clinical challenge in hematology. Therefore, in this study, we aimed to identify genetic and immunologic features associated with thrombocytopenia progression and poor prognosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The study involved 226 patients with PMF or SMF, who were categorized into three groups: platelet count \u2265 100 \u00d7 10<jats:sup>9<\/jats:sup>\/L (PLT \u2265 100 group; n = 131), progression to thrombocytopenia (PROG group; n = 64), and platelet count &amp;lt; 100 \u00d7 10<jats:sup>9<\/jats:sup>\/L (PLT &amp;lt; 100 group; n = 31).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Survival analysis revealed 4-year overall survival rate of 57.7%, 89.4%, and 93.9% for the PLT &amp;lt; 100, PROG, and PLT \u2265 100 groups, respectively. Time-dependent covariate analysis of the PLT \u2265 100 and PROG groups revealed inferior overall survival rate of the PROG group. Multivariate analysis indicated that progression to thrombocytopenia and <jats:italic>ASXL1<\/jats:italic> and <jats:italic>IDH1<\/jats:italic> mutations were associated with poor overall survival. Flow cytometry revealed fewer CD45RA<jats:sup>+<\/jats:sup>CD4<jats:sup>+<\/jats:sup> T cells in the PROG group than in the PLT \u2265 100 group. <jats:italic>ASXL1<\/jats:italic> mutations were more prevalent in the PROG group than in the other groups, correlating with a reduced number of CD45RA<jats:sup>+<\/jats:sup>CD4<jats:sup>+<\/jats:sup> T cells.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p><jats:italic>ASXL1<\/jats:italic> mutation and low CD45RA<jats:sup>+<\/jats:sup>CD4<jats:sup>+<\/jats:sup> T-cell counts correlated with progression to thrombocytopenia. Our findings underscore the clinical significance of thrombocytopenia dynamics in MF progression and prognosis, with implications for patient management and therapeutic interventions.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fmed.2024.1461421","type":"journal-article","created":{"date-parts":[[2024,11,7]],"date-time":"2024-11-07T13:53:56Z","timestamp":1730987636000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic and immunologic features associated with thrombocytopenia progression and poor prognosis in patients with myelofibrosis"],"prefix":"10.3389","volume":"11","author":[{"given":"Tong Yoon","family":"Kim","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ki-Seong","family":"Eom","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ji 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