年龄分层下269例Ph染色体阴性骨髓增殖性肿瘤患者临床分析  

Clinical Analysis of 269 Ph Chromosome-Negative Myeloproliferative Neoplasms Patients Stratified by Age

作　　者：陶红芳[1] 赵一帆 冯志金 邢学仰[1] 吴禹宏 陈芾珩[1] 苏永忠[1] TAO Hong-Fang;ZHAO Yi-Fan;FENG Zhi-Jin;XING Xue-Yang;WU Yu-Hong;CHEN Fu-Heng;SU Yong-Zhong(Department of Hematology,The First Affiliated Hospital of Shantou University Medical College,Shantou 515041,Guangdong Province,China)

机构地区：[1]汕头大学医学院第一附属医院血液科,广东汕头515041

出　　处：《中国实验血液学杂志》2020年第5期1668-1673,共6页Journal of Experimental Hematology

基　　金：广东省医学科学技术研究基金(A2016503)。

摘　　要：目的:探讨按年龄分层的青年组(年龄≤40岁)与中老年组(年龄>40岁)慢性骨髓增殖性肿瘤(MPN)患者临床特点的差异。方法:收集269例于本院就诊的MPN患者的临床资料,包括基因突变情况、初诊时外周血常规、影像学检查、既往病史等。结果:在原发性血小板增多症(ET)中,青年组患者三阴性比例高于中老年组患者,且青年组患者初诊时白细胞(WBC)和血小板(PLT)计数相对更低。在真性红细胞增多症(PV)患者中,JAK2V617F表达阳性率(80.65%)总体较国内外其他研究报道偏低。青年组PV患者JAK2V617F阳性率低于中老年组,且初诊时外周血WBC计数低于中老年组。所有PV患者中均未检测到CALR及MPL基因突变。在原发性骨髓纤维化(PMF)患者中,仅1例发病年龄<40岁;91.67%的患者表现有脾脏肿大,比例高于ET和PV患者。随访发现1个确诊家族性MPN家系和1个疑似家族性MPN家系,其中年龄最小的患者仅8岁,目前尚未对其进行二代基因测序检查,处于动态随访中。结论:年龄是MPN患者危险分层的重要参考指标。不同年龄和类型的MPN患者在基因突变、初诊时外周血细胞计数、罹患血栓事件、脾脏肿大等方面均存在差异。家族性MPN患者存在发病年龄逐代年轻化趋势。Objective:To investigate the difference of clinical characteristics between young patients(age≤40 years old)and middle-older patients(age>40 years old)with the myeloproliferative neoplasms(MPN).Methods:The clinical data(gene mutations,peripheral blood routine examinations,imaging examination and past history)of 269 MPN patients was collected and analyzed.Results:In essential thrombocythemia(ET)group,the proportion of triplenegative type in young patients was higher than that in middle-older group,while the peripheral white blood cell(WBC)and platelets(PLT)counts in the first visit were lower.In polycythemia vera(PV)group,the total detection rate of JAK2 V617 F(80.65%)was lower than that of other research reports.Young patients with PV showed the lower JAK2 V617 F rate and lower WBC count,compared with the middle-older aged patients.Both CALR and MPL mutations were not found in PV patients.There was only 1 primary myelofibrosis(PMF)patient aged<40 years old.91.67%of the patients merged splenomegaly and this rate was higher than that of ET or PV patients.It was found that there were a diagnosed familial MPN family and an undiagnosed family,and the youngest patient was only 8 years old.The secondgeneration gene sequencing detection for them was not carried out.Conclusion:Age is an important reference index in the assessment of risks.The MPN patients with different age and types show much difference in gene mutations,peripheral blood cell counts,thrombotic events and sizes of spleen.The onset ages of patients with familial MPN trends to be generational younger.

关 键 词：慢性骨髓增殖性肿瘤 年龄 JAK2V617F突变 CALR突变 MPL突变 

分 类 号：R551.3[医药卫生—血液循环系统疾病]