Impact of somatic gene mutations on the risk of thrombosis in myelofibrosis

IF 12.8 1区医学 Q1 HEMATOLOGY

Leukemia Pub Date : 2024-08-30 DOI:10.1038/s41375-024-02389-2

Irene Pastor-Galán, Arturo Pereira, Eduardo Arellano-Rodrigo, Iván Martín, Adrián Mosquera-Orgueira, María-Teresa Gómez-Casares, Alberto Hernández-Sánchez, Francisca Ferrer-Marín, Elvira Mora, Patricia Velez, Rosa Ayala, Anna Angona, Natalia de las Heras, Elena Magro, María-Isabel Mata-Vázquez, María-Laura Fox, Sonia González de Villambrosía, María-José Ramírez, Ana García, Valentín García-Gutiérrez, Amparo Cáceres, María-Antonia Durán, María-Alicia Senín, José-María Raya, José Antonio González, Beatriz Cuevas, Blanca Xicoy, Marta Garrote, Blanca Ferrer, Manuel Pérez-Encinas, Jesús María Hernández-Rivas, Beatriz Bellosillo, Alberto Álvarez-Larrán, Juan Carlos Hernández-Boluda

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Abstract

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]. 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.

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体细胞基因突变对骨髓纤维化血栓形成风险的影响

骨髓纤维化（MF）是一种慢性骨髓增生性肿瘤（MPN），以造血祖细胞克隆性增殖、骨髓纤维化和髓外造血为特征。通过 MPN 驱动基因（即 JAK2、CALR 和 MPL）的突变，JAK-STAT 通路信号的持续激活在其发病和进展过程中起着根本性的作用，而其他基因（非 MPN 驱动基因）的突变也会影响其发病和进展[1]。约 20% 的患者在确诊前或确诊时出现血栓形成，6-12% 的患者在随访期间出现血栓事件。血栓形成的主要风险因素包括年龄较大、既往有血栓形成病史和 JAK2 基因突变型 [2,3]。有几项研究评估了非骨髓增生性疾病驱动基因突变作为血栓形成风险因素在原发性血小板增多症（ET）[6, 7]和真性红细胞增多症（PV）[8, 9]中的作用，但它们在中性粒细胞增多症中的作用尚不明确。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Leukemia 医学-血液学

CiteScore

18.10

自引率

3.50%

发文量

270

审稿时长

3-6 weeks

期刊介绍： Title: Leukemia Journal Overview: Publishes high-quality, peer-reviewed research Covers all aspects of research and treatment of leukemia and allied diseases Includes studies of normal hemopoiesis due to comparative relevance Topics of Interest: Oncogenes Growth factors Stem cells Leukemia genomics Cell cycle Signal transduction Molecular targets for therapy And more Content Types: Original research articles Reviews Letters Correspondence Comments elaborating on significant advances and covering topical issues