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.

中文翻译：

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驱动突变在骨髓增生性肿瘤中的作用：小鼠模型的见解。

JAK2V617F或CALR外显子9突变的高频率是骨髓增生性肿瘤（MPN）的主要分子特征。对由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，并且突变基因的表达水平决定了疾病的表型。这些小鼠模型还阐明了MPN起始细胞的功能。这样的小鼠模型在疾病建模中也起着重要作用，以研究诸如MPK的JAK2抑制剂和干扰素α等治疗药物的作用和作用机制。血液测序肿瘤的突变格局已经通过下一代测序技术得以阐明，体内突变基因功能分析的重要性在未来应会进一步提高。