[骨髓增生性肿瘤的克隆进化]。

Kenichi Yoshida
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引用次数: 0

摘要

测序技术的最新进展阐明了费城染色体阴性(Ph-)骨髓增殖性肿瘤(MPN)的驱动基因情况,并加深了对 MPN 发病机制的了解。除了 MPN 的三个主要驱动基因(即 JAK2、MPL 和 CALR)的突变外,还发现了表观遗传调节因子和 RNA 剪接因子的体细胞突变,并确定了它们与向骨髓纤维化和急性髓性白血病转化的关系。在健康人,尤其是老年人中,已发现存在驱动基因突变的造血细胞克隆扩增(克隆造血)。然而,在多发性骨髓瘤患者中,JAK2 和 DNMT3A 等初始驱动基因突变已被证明是在子宫内或儿童期获得的。在这篇综述中,我将总结有关 MPN 克隆进化和驱动基因突变作用的最新发现。
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[Clonal evolution in myeloproliferative neoplasms].

Recent advances in sequencing technologies have clarified the driver gene landscape in Philadelphia chromosomenegative (Ph-) myeloproliferative neoplasms (MPNs) and progressed understanding of MPN pathogenesis. Beyond mutations in the main three drivers of MPN, namely JAK2, MPL and CALR, somatic mutations in the epigenetic regulators and RNA splicing factors have been identified and their association with transformation to myelofibrosis and acute myeloid leukemia have been determined. Clonal expansion of hematopoietic cells with driver mutations (clonal hematopoiesis) has been detected in healthy individuals, especially in elderly people. In MPN patients, however, initial driver mutations such as those in JAK2 and DNMT3A have been shown to be acquired in utero or during childhood. In this review, I will summarize the recent findings about clonal evolution in MPN and the role of driver mutations.

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