摘要
目的 研究断裂点簇集区/Abelson白血病病毒(BCR-ABL)阴性骨髓增殖性肿瘤(MPN)患者Janus激酶2(JAK2)V617F基因突变情况及其与疾病类型、血管性疾病的关系。方法 选取2020年5月至2023年5月濮阳市安阳地区医院收治的79例BCR-ABL阴性MPN患者为研究对象,另选取同期健康体检人群80例为对照组,于入院第1天采集外周血检测血常规和凝血功能,采用荧光定量聚合酶链反应技术(PCR)技术检测JAK2 V617F基因突变率和突变负荷,根据疾病类型和是否合并血管性疾病将患者分组并比较各组检测结果,采用多因素logistic回归分析研究血管性疾病影响因素。结果 MPN组JAK2 V617F基因突变率高于对照组(P<0.05);真性红细胞增多症(PV)组、原发血小板增多症(ET)组和原发性骨髓纤维化(PMF)组JAK2 V617F突变率分别为92.31%、57.78%和62.50%,ET组和PMF组突变率均低于PV组(P<0.05),3组突变负荷差异无统计学意义(P>0.05);血管性疾病组JAK2 V617F基因突变率和突变负荷均高于非血管性疾病组(P<0.05);血管性疾病组年龄、骨髓增殖性肿瘤总症状评估问卷(MPN-10)评分、纤维蛋白原(Fib)和D-二聚体(D-D)水平高于非血管性疾病组(P<0.05),两组性别、疾病分类、血红蛋白(Hb)、白细胞(WBC)、血小板(PLT)、活化部分凝血激酶时间(APTT)和斑块厚度(PT)差异无统计学意义(P>0.05)。JAK2 V617F基因突变阳性组Fib和D-D水平均高于JAK2 V617F基因突变阴性组(P<0.05);MPN并发血管性疾病危险因素包括年龄、D-D、JAK2 V617F突变阳性和JAK2 V617F突变负荷(P<0.05)。结论 BCR-ABL阴性MPN患者JAK2 V617F基因突变率较高,且JAK2 V617F基因突变可能引起凝血异常,与疾病类型和血管性疾病均存在密切联系。
Objective To study the gene mutations of Janus kinase 2(JAK2)V617F in patients with breakpoint cluster region/Abelsonleukemia virus(BCR-ABL)-negative myeloproliferative neoplasm(MPN)and their relationship with disease types and vascular diseases.Methods A total of 79 patients with BCR-ABL-negative MPN in Anyang District Hospital of Puyang from May 2020 to May 2023 were selected as the study subjects,and 80 healthy people with physical examination during the same period were included in control group.Peripheral blood was collected on the first day after admission to detect blood routine and coagulation function.The mutation rates and mutation loads of JAK2 V617F genes were detected by fluorescence quantitative polymerase chain reaction(PCR).The patients were grouped according to disease types and absence or presence of vascular diseases,and the detection results were compared among the groups.The influencing factors of vascular diseases were studied by multivariate logistic regression analysis.Results The mutation rate of JAK2 V617F gene in MPN group was higher than that in control group(P<0.05).The JAK2 V617F mutation rates in polycythemia vera(PV)group,essential thrombocytosis(ET)group and primary myelo fibrosis(PMF)group were 92.31%,57.78%and 62.50%respectively,and the mutation rate in ET group and PMF group was lower than that in PV group(P<0.05),but there was no statistical difference in mutation load among the three groups(P>0.05).The mutation rate and mutation load of JAK2 V617F gene in vascular disease group were higher than those in non-vascular disease group(P<0.05).The age,myeloproliferative neoplasms total symptom score questionnaire(MPN-10)score,fibrinogen(Fib)and D-dimer(D-D)levels in vascular disease group were higher than those in non-vascular disease group(P<0.05),there were no statistical difference in gender,disease classification,hemoglobin(Hb),white blood cell(WBC),platelet count(PLT)levels,activated partial thromboplastin time(APTT)and prothrombin time(PT)between the two groups(P>0.05).The levels of Fib and D-D in positive JAK2 V617F gene mutation group were higher than those in negative JAK2 V617F gene mutation group(P<0.05).The risk factors of MPN with vascular diseases included age,D-D,positive JAK2 V617F mutation and JAK2 V617F mutation load(P<0.05).Conclusion Among patients with BCR-ABL-negative MPN,the mutation rate of JAK2 V617F gene is high,and JAK2 V617F gene mutation may cause coagulation abnormality and is closely related to disease types and vascular diseases.
作者
张晓南
孟君霞
武永强
ZHANG Xiaonan;MENG Junxia;WU Yongqiang(The First Ward of Hematology Department,Anyang District Hospital of Puyang,Anyang 455000,China)
出处
《河南医学研究》
CAS
2024年第11期1939-1943,共5页
Henan Medical Research
