周　萍，　唐吉斌，　焦瑞宝，　章　文，　曹春鸾，　崇慧峰，　钟维君

(1.铜陵市人民医院临床检验中心，安徽 铜陵 244009；2.艾迪康医学检验中心，浙江 杭州 310000)

骨髓增殖性疾病诊断综合分析的意义

周萍1，唐吉斌1，焦瑞宝1，章文1，曹春鸾1，崇慧峰1，钟维君2

(1.铜陵市人民医院临床检验中心，安徽 铜陵 244009；2.艾迪康医学检验中心，浙江 杭州 310000)

摘要：目的探讨骨髓增殖性疾病(MPD)患者JAK2基因V617F点突变情况以及与血细胞计数、骨髓细胞形态结合对诊断的意义。方法对102例外周血血细胞计数有不同程度增高的患者采用实时荧光定量聚合酶链反应(PCR)检测JAK2基因V617F点突变，并同步进行骨髓细胞形态学观察。结果54例MPD患者中真性红细胞增多症(PV)、原发性血小板增多症(ET)、原发性骨髓纤维化(PMF)患者的JAK2基因V617F突变率分别为91.7%、50.0%、66.7%，48例非MPD患者(包括继发性红细胞增多症、继发性血小板增多症、继发性骨髓纤维化)均未检测到JAK2V617F突变；两组比较差异有统计学意义(P<0.05)。MPD组与非MPD组之间有部分血细胞计数值的差异有统计学意义(P<0.05)，MPD组骨髓细胞形态具有一定特征。结论MPD患者JAK2基因V617F点突变率明显高于继发性血液学异常，与血细胞计数及骨髓细胞形态结合对诊断有重要意义。

关键词：骨髓增殖性疾病；JAK2基因V617F点突变；骨髓细胞形态；血细胞计数

中图分类号：

文章编号：1673-8640(2015)01-0026-05R446.11

文献标志码：码：A

DOI：10.3969/j.issn.1673-8640.2015.01.007

Abstract:ObjectiveTo investigate the significance of V617F mutation in JAK2 gene combining cytometry and bone marrow cell morphology on the diagnosis of myeloproliferative disease (MPD). MethodsOf the 102 cases whose peripheral blood number increased with various degrees, the real-time fluorescence quantitation polymerase chain reaction (PCR) was applied to detect the V617F mutation in JAK2 gene, and the cell morphology of bone marrow was observed. ResultsIn the 54 cases of MPD, including polycythemia vera (PV) and essential thrombocythemia (ET) and primary myelofibrosis (PMF), the positive rates of JAK2 V617F mutation were 91.7%, 50.0% and 66.7% respectively, while JAK2 V617F mutation was not detected in the 48 non-MPD cases with statistical significance (P<0.05). Between MPD and non-MPD groups, the value of part blood cell count had statistical significance (P<0.05). There existed a certain characteristic on bone marrow cell morphology in MPD group. ConclusionsCompared with patients with secondary blood disease, MPD patients display higher frequency of V617F mutation in JAK2 gene, and there is vital significance for the diagnosis with combination of cytometry and bone marrow cell morphology.

作者简介：周萍，女，1976年生，学士，主管技师，主要从事血液学检验工作。

通讯作者：唐吉斌，联系电话：0562-2827195。

收稿日期：(2014-10-12)

Significance of comprehensive analysis on the diagnosis of myeloproliferative diseaseZHOUPing1,TANGJibin1,JIAORuibao1,ZHANGWen1,CAOChunluan1,CHONGHuifeng1,ZHONGWeijun2.(1.DepartmentofClinicalLaboratory,TonglingPeople′sHospital,AnhuiTongling244009,China; 2.ADICONClinicalLaboratories,ZhejiangHangzhou310000,China)

Key words: Myeloproliferative disease;JAK2 gene V617F mutation; Bone marrow cell morphology; Blood cell count

在2008年第4版世界卫生组织(WHO)关于髓系肿瘤分类中，将骨髓增殖性疾病(myelo-proliferative disorders，MPD)更名为骨髓增殖性肿瘤(myeloproliferative neoplasms，MPN)，仅将融合基因(BCR-ABL)阴性的真性红细胞增多症(polycythemia vera，PV)、原发性血小板增多症(essential thrombocythemia，ET)、原发性骨髓纤维化(primary myelofibrosis，PMF)列入MPD[1]，这一分型改变源自对血液系统肿瘤分子致病机制的逐步了解。2005年国际上多个研究组[2-3]的研究显示，PV、ET和PMF中普遍存在着JAK2基因V617F点突变。……