Ph阴性MPN患者JAK2、CALR或MPL基因突变检测及临床分析  

Clinical Analysis of Test of JAK2, CALR or MPL Genic Mutation of Negative Ph Patients with MPN

作　　者：孙福金 刘南[1] 陈伟伟[1] SUN Fu-jin;LIU Nan;CHEN Wei-wei(Department of Hematology,Heze Municiple Hospital,Heze,Shandong Province,274000 China)

机构地区：[1]山东省菏泽市立医院血液科,山东菏泽274000

出　　处：《中外医疗》2018年第2期24-26,29,共4页China & Foreign Medical Treatment

摘　　要：目的了解Ph阴性骨髓增殖性肿瘤(MPN)患者JAK2、CALR或MPL基因突变情况及相关临床特症,加强对MPN疾病的认识。方法回顾性分析2014年1月—2017年1月菏泽市立医院就诊的105例Ph阴性MPN患者的临床资料、实验室检查及治疗、预后情况。结果 105例Ph阴性MPN患者中,中位发病年龄65岁,约半数患者无症状,大多首发以头痛、眩晕、疲乏、视力障碍、肢端麻木等神经症状、出血、血栓形成、腹痛、脾大等症状为主。39例真性红细胞增多症(PV)患者中30例JAK2V 617F突变(突变率77%),42例原发性血小板增多症(ET)患者中22例JAK2V617F突变(突变率52%),11例CALR突变(突变率26%),1例MPL W515L/K突变(突变率2%)。24例原发性骨髓纤维化(PMF)患者中18例携带有JAK2 V617F突变(突变率75%)。PV患者中,JAK2 V617F野生型血小板、白细胞数低于JAK2 V617F突变阳性者,差异有统计学意义(均P<0.05);ET患者中JAK2 V617F突变阳性患者血红蛋白浓度、白细胞计数、血管事件发生率、危险度分层高于CALR突变阳性患者(P<0.05)。MPN治疗主要包括:抗血栓治疗,放血疗法,细胞减少治疗。并发症主要为骨髓造血衰竭及血栓形成、出血等。结论 JAK2 V617F、CALR、MPL突变基因检测对MPN诊断、分类及预后有直接影响。对于PV和PT,治疗主要是预防血栓、出血等并发症,减缓疾病的进展;PMF治疗目标是对生存影响的评估。Objective To know the clinical related features of JAK2,CALR or MPL genic mutation of negative Ph patients with MPN and enhance the awareness of MPN disease.Methods The clinical data,laboratory examination and treatment and prognosis of 105 cases of Ph negative MPN patients diagnosed in our hospital from January 2014 to January 2017 were retrospectively analyzed.Results Of 105 cases with Ph negative MPN patients,the median onset age was 65 years old,and about half of patients had no symptoms and the major symptoms of most patients were headache,dizziness,fatigue,vision disorder,acroanesthesia,bleeding,thrombosis,abdominal pain and splenomegaly,of 39 cases of PV patients,30 cases were with JAK2V617F mutation(mutation rate 77%),of 42 cases of ET patients,22 cases were with JAK2 V617F mutation(mutation rate 52%),11 cases were with CALR mutation(mutation rate 26%),1 case was with MPL W515L/K mutation(mutation rate 2%),of 24 cases of PMF patients,18 cases were with JAK2 V617F mutation(mutation rate 75%),of PV patients,the JAK2 V617F wild type platelets and white blood cell count were lower than those of JAK2 V617F mutation positive patients,and the differences were statistically significant(P<0.05),of ET patients,the hemoglobin concentration,leucocyte count,incidence rate of vascular events and risk stratification of JAK2 V617F mutation positive patients were higher than those of CALR mutation positive patients(P<0.05),and the major MPN treatment included:antithrombosis therapy,bloodletting therapy and cytopenia therapy,and the major complications were bone marrow hematopoietic failure and thrombosis and hemorrhage.Conclusion The JAK2 V617F,CALR,MPL mutation gene test has a direct effect on MPN diagnosis,classification and prognosis,and the treatment of PV and PT is to prevent the complications such as thrombosis and hemorrhage,relieve the progression of diseases and the PMF treatment goal is the evaluation of survival effect.

关 键 词：肿瘤性增殖 骨髓 原发 基因 WHO 

分 类 号：R4[医药卫生—临床医学]