骨髓增生异常综合征患者外周血JAK2^V617F 基因检测及临床意义  

The detection and clinical significance of JAK2^V617F mutations in myelodysplastic syndrome patients

作　　者：王婷[1] 潘琳莉[1] 吴杰[1] 王艳军[1] 张磊[1] 李光耀[2] 

机构地区：[1]泰山医学院附属聊城市第二人民医院血液肿瘤科,山东省聊城252600 [2]泰山医学院附属聊城市第二人民医院血液科,山东省聊城252600

出　　处：《中国基层医药》2016年第4期573-576,共4页Chinese Journal of Primary Medicine and Pharmacy

摘　　要：目的：比较骨髓增生异常综合征（MDS）难治性贫血（MDS-RA）型与难治性贫血伴原始细胞增多（MDS-RAEB）型患者外周血 JAK2^V617F基因表达水平，进而监测 MDS 的病情进展。方法建立 JAK2^V617F基因表达的荧光定量 FQ-PCR 检测方法，回顾性分析确诊为 MDS 的患者共22例（其中 MDS-RAEB1型6例， MDS-RAEB2型4例，MDS-RA 型12例），抽取同期健康体检者20例，应用 FQ-PCR 方法监测健康人群、MDS-RA 型患者、MDS-RAEB 型患者外周血 JAK2^V617F基因表达水平。结果健康人外周血 JAK2^V617F基因不表达或低表达，拷贝数为（596．98±470．46），MDS-RA 患者为（4631．11±3851．96），MDS-RA 患者显著高于健康人（t ＝3．61，P ＜0．01）；MDS-RAEB 患者为（22545．98±11084．17），显著高于 MDS-RA 患者（t ＝4．87，P ＜0．01）。结论JAK2^V617F基因有可能参与了 MDS 的发病及其恶性转变，监测外周血 JAK2^V617F基因表达有助于监测 MDS 的病情进展、判断预后和进行基因调控治疗。Objective To explore the pathogenesis of myelodysplastic syndrome （MDS）transformation, JAK2^V617F mRNA expression levels were compared in peripheral blood of MDS-RA（refractory anemia,RA）and MDS-RAEB（RA with excess blasts,RAEB）patients.Methods JAK2^V617F mRNA expression level was detected by fuorescent quantitative polymerase chain reaction（FQ-PCR）,and this research reviewed 22 patients diagnosed with MDS,including outpatient and hospitalized patients.20 cases of normal control group were healthy ones.FQ-PCR method was applied to monitor JAK2^V617F mRNA expression level in peripheral blood of MDS-RA and MDS-RAEB patients.Results The JAK2^V617F gene was not expressed or expressed in healthy subjects,and the copy number was （3 851.96 ±470.46）.The patients with MDS-RA（4 631.11 ±3 851.96）was significantly higher than that in healthy subjects（t =3.61,P 〈0.01）;MDS-RAEB patients was （22 545.98 ±11 084.17）,and was significantly higher than that in MDS-RA patients（t =4.87,P 〈0.01）.Conclusion JAK2^V617F signal transduction can play a role in the pathogenesis and transformation of MDS,and the detection of JAK2-V617F mRNA expression level is use-ful for monitoring progression,judging prognosis and gene regulation therapy of MDS.

关 键 词：骨髓增生异常综合征 外周血 基因 JAK2V617F 

分 类 号：R551.3[医药卫生—血液循环系统疾病]