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Myelofibrosis (MF) is a chronic myeloproliferative neoplasm (MPN) characterized by clonal proliferation of hematopoietic progenitors, bone marrow fibrosis, and extramedullary hematopoiesis. Constitutive activation of JAK-STAT pathway signaling through mutations in the MPN driver genes (i.e., JAK2, CALR, and MPL) plays a fundamental role in its pathogenesis and progression, which can be influenced by mutations in other genes (non-MPN driver genes) [1].Thrombotic complications increase morbidity and mortality in MF [2,3,4,5].

骨髓纤维化（MF）是一种慢性骨髓增生性肿瘤（MPN），其特征在于造血祖细胞的克隆增殖，骨髓纤维化和髓外造血。通过MPN驱动基因突变（即JAK2、CALR和MPL）组成性激活JAK-STAT通路信号在其发病机制和进展中起着重要作用，这可能受到其他基因突变（非MPN驱动基因）的影响。。

Around 20% of patients experience thrombosis before or at diagnosis, with 6–12% developing thrombotic events during follow-up. The main risk factors for thrombosis include older age, a prior history of thrombosis, and a JAK2 mutated genotype [2, 3]. While several studies have evaluated non-MPN driver gene mutations as risk factors for thrombosis in essential thrombocythemia (ET) [6, 7] and polycythemia vera (PV) [8, 9], their role in MF is less defined..

大约20%的患者在诊断前或诊断时经历血栓形成，其中6-12%的患者在随访期间发生血栓形成事件。血栓形成的主要危险因素包括年龄较大，既往有血栓形成史和JAK2突变基因型[2，3]。虽然一些研究评估了非MPN驱动基因突变是原发性血小板增多症（ET）和真性红细胞增多症（PV）血栓形成的危险因素，但它们在MF中的作用尚不明确。。

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Fig. 1: Incidence of arterial and venous thrombosis after diagnosis in myelofibrosis patients depending on risk groups.

图1：根据风险组，骨髓纤维化患者诊断后动脉和静脉血栓形成的发生率。

Data availability

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The data supporting the findings of this study are available on request from the corresponding author. The study was approved by the scientific board of GEMFIN.

支持本研究结果的数据可应通讯作者的要求提供。这项研究得到了GEMFIN科学委员会的批准。

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Download referencesAcknowledgementsWe thank María Pereira for her helpful aid with the figures of this article.FundingThe Spanish Registry of Myelofibrosis was initially sponsored by a grant from Novartis Pharmaceuticals, Inc. This work was supported by the grants PI21/00538, PI21/00347 and PI21/00231 from the Instituto de Salud Carlos III, Spanish Ministry of Health.Author informationAuthors and AffiliationsHospital Clínico Universitario-INCLIVA, Valencia, SpainIrene Pastor-Galán, Iván Martín, Blanca Ferrer & Juan Carlos Hernández-BoludaHospital Clínic, Institut d’Investigacions Biomèdiques August Pi i Sunyer, Barcelona, SpainArturo Pereira, Eduardo Arellano-Rodrigo, Marta Garrote & Alberto Álvarez-LarránHospital Clínico Universitario, Santiago de Compostela, SpainAdrián Mosquera-Orgueira & Manuel Pérez-EncinasHospital Dr Negrín, Las Palmas de Gran Canaria, SpainMaría-Teresa Gómez-CasaresHospital Universitario de Salamanca, Salamanca, SpainAlberto Hernández-Sánchez & Jesús María Hernández-RivasHospital Morales Meseguer, Universidad Católica San Antonio de Murcia, Centro de Investigación Biomédica en Red de Enfermedades Raras, Murcia, SpainFrancisca Ferrer-MarínHospital Universitario La Fe, Valencia, SpainElvira MoraHospital del Mar, Barcelona, SpainPatricia Velez & Beatriz BellosilloHospital Universitario 12 de Octubre, I+12, Complutense University, Centro de Investigación Biomédica en Red de Oncología, Madrid, SpainRosa AyalaHospital Josep Trueta, Institut Catalá d’Oncologia, Girona, SpainAnna AngonaHospital Universitario de León, León, SpainNatalia de las HerasHospital Príncipe de Asturias, Alcalá de Henares, SpainElena MagroHospital Costa del Sol, Marbella, SpainMaría-Isabel Mata-VázquezVall d’Hebron Institute of Oncology (VHIO), Vall d’Hebron Hospit.

下载参考资料Cescacknowledgementswe感谢Maria Pereira对她提供了这篇文章中人物的帮助。西班牙骨髓纤维化登记处的资金最初由诺华制药公司的一笔赠款资助。这项工作得到了西班牙卫生部卡洛斯三世健康研究所的PI21/00538、PI21/00347和PI21/00231赠款的支持。作者信息作者和附属机构Shospital Universidal Clinical-Incliva、Valencia、Spainirene Pastor-Galán、Iván Martin、Blanca Ferrer和Juan Carlos Hernández-BoludaHospital Clinic、August Pi i Sunyer生物医学研究所、巴塞罗那、Spainarturo Pereira、Eduardo Arellano-Rodrigo、Marta Garrote和AlbertoÁlvarez-Larránhospital Universidal Clinical、Santiago de Compostela、Spainadrian Mosquera-Orgueira和Manuel Perez-Encinashospital Drín，大加那利岛拉斯帕尔马斯、西班牙-特蕾莎·戈麦斯-萨拉曼卡大学卡萨雷什医院、萨拉曼卡、西班牙贝尔托·埃尔南德斯-桑切斯和耶稣·玛丽亚·埃尔南德斯-里瓦什医院-莫拉莱斯·梅斯格尔、圣安东尼奥-德穆尔西亚天主教大学、罕见疾病网络生物医学研究中心、穆尔西亚，西班牙Patricia Velez&Beatriz Bellosillohohospital Universidal 10月12日，I+12，康普顿斯大学，肿瘤网络生物医学研究中心，马德里，西班牙阿亚拉医院Josep Trueta，加泰罗尼亚肿瘤研究所，赫罗纳，西班牙安哥纳大学莱昂医院，莱昂，西班牙阿斯图里亚斯王子赫拉霍斯皮塔尔医院，阿尔卡拉·德·埃纳雷斯，西班牙马格罗医院-太阳海岸，马贝拉，Spainmaria-Isabel Mata-Vazquezvall d'Hebron肿瘤研究所（VHIO），Vall d'Hebron医院。

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PubMed Google ScholarContributionsJCHB prepared the GEMFIN database; AP performed the statistical analysis; IPG, AP and JCHB wrote the paper; all co-authors critically evaluated the manuscript, made substantial recommendations, and approved the submission of this manuscript.Corresponding authorsCorrespondence to.

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et al. Impact of somatic gene mutations on the risk of thrombosis in myelofibrosis..

体细胞基因突变对骨髓纤维化血栓形成风险的影响。。

Leukemia (2024). https://doi.org/10.1038/s41375-024-02389-2Download citationReceived: 19 June 2024Revised: 14 August 2024Accepted: 15 August 2024Published: 30 August 2024DOI: https://doi.org/10.1038/s41375-024-02389-2Share this articleAnyone you share the following link with will be able to read this content:Get shareable linkSorry, a shareable link is not currently available for this article.Copy to clipboard.

白血病（2024）。https://doi.org/10.1038/s41375-024-02389-2Download引文收到日期：2024年6月19日修订日期：2024年8月14日接受日期：2024年8月15日发布日期：2024年8月30日OI：https://doi.org/10.1038/s41375-024-02389-2Share本文与您共享以下链接的任何人都可以阅读此内容：获取可共享链接对不起，本文目前没有可共享的链接。复制到剪贴板。

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Myeloproliferative diseaseRisk factors

骨髓增生性疾病危险因素