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驱动基因突变在骨髓增殖性肿瘤中的作用:来自小鼠模型的见解。

The role of driver mutations in myeloproliferative neoplasms: insights from mouse models.

机构信息

Department of Gastroenterology and Hematology, Faculty of Medicine, University of Miyazaki, 5200 Kihara, Kiyotake, Miyazaki, 889-1692, Japan.

出版信息

Int J Hematol. 2020 Feb;111(2):206-216. doi: 10.1007/s12185-019-02803-x. Epub 2019 Dec 21.

Abstract

High frequency of JAK2V617F or CALR exon 9 mutations is a main molecular feature of myeloproliferative neoplasms (MPNs). Analysis of mouse models driven by these mutations suggests that they are a direct cause of MPNs and that the expression levels of the mutated genes define the disease phenotype. The function of MPN-initiating cells has also been elucidated by these mouse models. Such mouse models also play an important role in modeling disease to investigate the effects and action mechanisms of therapeutic drugs, such as JAK2 inhibitors and interferon α, against MPNs. The mutation landscape of hematological tumors has already been clarified by next-generation sequencing technology, and the importance of functional analysis of mutant genes in vivo should increase further in the future.

摘要

JAK2V617F 或 CALR 外显子 9 突变的高频是骨髓增殖性肿瘤 (MPN) 的主要分子特征。这些突变驱动的小鼠模型的分析表明,它们是 MPN 的直接原因,突变基因的表达水平决定了疾病表型。这些小鼠模型还阐明了 MPN 起始细胞的功能。这些小鼠模型在模拟疾病以研究 JAK2 抑制剂和干扰素 α 等治疗药物对 MPN 的作用和作用机制方面也发挥着重要作用。下一代测序技术已经阐明了血液肿瘤的突变景观,因此,在未来,体内突变基因的功能分析的重要性应该会进一步增加。

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