[钙网蛋白基因突变与JAK2/MPL阴性骨髓增殖性肿瘤的关系]
[Relationship between Calreticulin Gene Mutation and JAK2/MPL Negative Myeloproliferative Neoplasms].
作者信息
Dong Lu, Shen Xu-Liang, Wei Wu
机构信息
The First Clinicial College, Shanxi Medical University, Taiyuan 030001, Shanxi Province, China.
Central Laboratory, Heping Hospital Affilated to Changzhi Medical College, Changzhi 046000, Shanxi Province, China.
出版信息
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2015 Oct;23(5):1532-4. doi: 10.7534/j.issn.1009-2137.2015.05.060.
In 2008, WHO made the JAK2V617F gene mutation as one of the specific molecular diagnostic markers of BCR/ABL-negative myeloproliferative neoplasms (MPN). In 2013 two research teams demonstrated that whole genome sequencing technology (WGS) was used to detect calreticulin gene mutation in essential thrombocythaemia (ET) and primary myelofibrosis (PMF) patients with JAK2V617F⁻ and MPL⁻ mutations. In this review, the relationship of CALR gene mutation with MPN is briefly summarized.
2008年，世界卫生组织将JAK2V617F基因突变列为BCR/ABL阴性骨髓增殖性肿瘤（MPN）的特异性分子诊断标志物之一。2013年，两个研究团队证明，全基因组测序技术（WGS）用于检测伴有JAK2V617F⁻和MPL⁻突变的原发性血小板增多症（ET）和原发性骨髓纤维化（PMF）患者的钙网蛋白基因突变。在本综述中，简要总结了CALR基因突变与MPN的关系。
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