JAK2基因突变与慢性髓系白血病易感性的meta分析

Meta analysis on association between JAK2 gene mutation and susceptibility to chronic myeloid leukemia

目的:探讨JAK2 基因突变与慢性髓系白血病(CML)的关系。方法:检索中国知网(CNKI)、维普(VIP)、万方、PubMed、Web of Science、CBM数据库中关于JAK2 突变与CML关系的文章。检索时间截至2018年9月,由两位研究者独立按照纳入与排除标准筛选文献,提取资料后,用纽卡斯尔-渥太华量表(NOS)评分进行质量评价。采用Stata 11.0、RevMan 5.3软件进行meta分析。结果:共纳入15篇文章,包含总病例数1 684例,JAK2 基因突变104例(突变位点分别位于第12和第14号外显子编码序列的第1 849位碱基G被T取代)。Meta分析结果显示CML患者的JAK2 基因突变率为0.08[95%CI (0.05,0.11)],亚组分析显示费城染色体(Ph)和JAK2 是否突变、不同地区的突变分布、外显子的突变位点是异质性的主要来源。结论:慢性髓系白血病细胞JAK2 基因外显子12和14突变、突变体JAKV617F 的存在可能促使CML的发生。

OBJECTIVE:To investigate the association between JAK2 gene mutation and development of chronic myeloid leukemia (CML). METHODS: A systematic literature searches of CNKI, VIP, Wanfang, PubMed,Web of Science and CBM databases were conducted in September 2018. The identified publications were screened for inclusion and exclusion criteria by two researchers independently. Data were extracted from selected papers and evaluated for quality using a modified NOS score. Meta-analyses were performed by using the Stata 11.0 and RevMan 5.3 software. RESULTS:A total of 15 articles were selected which included 1 684 cases and 104 mutations (JAK2V617F mutation is characterized by a G to T transversion at nucleotide 1 849 in exon 12 or exon 14 of the gene). Meta-analyses show that the mutation rate of JAK2 in CML patients was 0.08 [95%CI (0.05,0.11)]. Subgroup analyses show that the main reason for heterogeneity of whether Ph and JAK2 mutations involved different regions and exon mutation site. CONCLUSION:The JAK2 exon 12 and 14 mutations and mutant JAKV617F were associated with the development of CML.