骨髓增殖性疾病诊断综合分析的意义

doi:10.3969/j.issn.1673-8640.2015.01.007

摘要/Abstract

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

Abstract:

Objective To investigate the significance of V617F mutation in JAK2 gene combining cytometry and bone marrow cell morphology on the diagnosis of myeloproliferative disease (MPD). Methods Of 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. Results In 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. Conclusions Compared 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.

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

中图分类号:

R446.11

周萍, 唐吉斌, 焦瑞宝, 章文, 曹春鸾, 崇慧峰, 钟维君. 骨髓增殖性疾病诊断综合分析的意义[J]. 检验医学, 2015, 30(1): 26-30.

ZHOU Ping, TANG Jibin, JIAO Ruibao, ZHANG Wen, CAO Chunluan, CHONG Huifeng, ZHONG Weijun. Significance of comprehensive analysis on the diagnosis of myeloproliferative disease[J]. Laboratory Medicine, 2015, 30(1): 26-30.

图/表 8

参考文献 10

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组别	例数	WBC(×10⁹/L)	Hb(g/L)	PLT(×10⁹/L)
PV组	24	15.03±5.14	178.90±14.13	526.50±206.90
继发性红细胞增多症组	16	9.68±5.20	158.25±19.15	182.75±97.18

组别	例数	WBC(×10⁹/L)	Hb(g/L)	PLT(×10⁹/L)
PV组	24	15.03±5.14	178.90±14.13	526.50±206.90
继发性红细胞增多症组	16	9.68±5.20	158.25±19.15	182.75±97.18

组别	例数	WBC(×10⁹/L)	Hb(g/L)	PLT(×10⁹/L)
ET组	24	10.27±4.29	122.38±19.21	757.58±254.92
继发性血小板增多症组	22	8.66±3.22	112.27±15.43	496.64±175.66

组别	例数	WBC(×10⁹/L)	Hb(g/L)	PLT(×10⁹/L)
ET组	24	10.27±4.29	122.38±19.21	757.58±254.92
继发性血小板增多症组	22	8.66±3.22	112.27±15.43	496.64±175.66

组别	例数	WBC(×10⁹/L)	Hb(g/L)	PLT(×10⁹/L)
PMF组	6	14.35(8.25,18.64)	64.50(59.75,82.00)	44.50(38.00,53.25)
继发性骨髓纤维化组	10	13.65(9.41,23.78)	92.50(67.50,114.00)	67.00(34.25,89.25)