CALR基因突变与JAK2/MPL突变阴性的骨髓增殖性肿瘤的关系  

Relationship between Calreticulin Gene Mutation and JAK2 /MPL Negative Myeloproliferative Neoplasms——Review

作　　者：董露[1,2] 申徐良[2] 魏武[2] 

机构地区：[1]山西医科大学第一临床医学院,山西太原030001 [2]长治医学院附属和平医院中心实验室,山西长治046000

出　　处：《中国实验血液学杂志》2015年第5期1532-1534,共3页Journal of Experimental Hematology

基　　金：山西省自然科学基金项目(2013011056-3);山西省高校科技开发项目(20121013);山西省卫生厅科研课题(20122008)

摘　　要：2008年世界卫生组织(WHO)将JAK2V617F基因突变列为BCR/ABL阴性的骨髓增殖性肿瘤(myeloproliferative neoplasms,MPN)特异性的分子诊断标志物,2013年国外两个研究小组同时在新英格兰杂志发表文章应用全基因组测序技术(whole genome shot-gun,WGS)检测到JAK2V617F-和MPL-的原发性血小板增多症(essential thrombocythaemia,ET)和原发性骨髓纤维化(primary myelofibrosis,PMF)患者中存在高频钙网蛋白(Calreticulin,CALR)突变,因此本文就CALR突变与MPN可能的关系做一综述。In 2008,WHO made the JAK2V617 F 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.

关 键 词：骨髓增殖性肿瘤 CALR突变 JAK2V617突变 MPL突变 

分 类 号：R733.3[医药卫生—肿瘤]