[JAK2, CALR].

Makoto Ikejiri
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引用次数: 0

Abstract

Representative diseases of BCR/ABL-negative myeloproliferative neoplasms (MPN) are polycythemia vera (PV), essential thrombocytosis (ET), and primary myelofibrosis (PMF). It was reported in 2005 that there is a common genetic mutation in Exon 14 of the JAK2 gene in MPN cases. The gene mutation is a point mutation at which the 617th amino acid of the JAK2 protein is substituted from valine to phenylalanine and is referred to as the JAK2 V617F mutation. Subsequently, JAK2 Exon 12 mutation, MPL gene mutation, and CALR gene mutation were detected in 2013, and it was revealed that in almost all cases of BCR/ABL- negative MPN, any gene mutation could be involved as a driver gene mutation. As a result, in the WHO classification 2016, gene mutation analyses of JAK2, MPL, and CALR were incorporated into the diagnostic criteria. Analysis of gene mutation is indispensable for the diagnosis of MPN. Also, its importance as an inspection item is increasing. [Review].

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[JAK2,CALR]
BCR/ abl阴性骨髓增生性肿瘤(MPN)的代表性疾病是真性红细胞增多症(PV)、原发性血小板增多症(ET)和原发性骨髓纤维化(PMF)。据2005年报道,MPN病例中JAK2基因外显子14有一个共同的基因突变。基因突变是JAK2蛋白的第617个氨基酸从缬氨酸取代为苯丙氨酸的点突变,称为JAK2 V617F突变。随后,在2013年检测到JAK2外显子12突变、MPL基因突变和CALR基因突变,发现在几乎所有BCR/ABL-阴性MPN病例中,任何基因突变都可能作为驱动基因突变参与。因此,在2016年WHO分类中,JAK2、MPL和CALR的基因突变分析被纳入诊断标准。基因突变分析对于MPN的诊断是必不可少的。此外,其作为检查项目的重要性也在增加。(审查)。
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