不同基因突变的中国原发性血小板增多症患者临床特征及骨髓病理学特点

Clinical Characteristics and Bone Marrow Histopathology Features in Essential Thrombocythaemia Patients with Different Gene Mutation in China

目的:探讨CALR、JAK2、MPL不同基因突变原发性血小板增多症(ET)患者的临床特征、实验室及骨髓病理学特点。方法:2015年1月-2017年12月于我院确诊的ET患者120例,其中JAK2基因突变76例,CALR基因突变40例,MPL基因突变2例,3基因突变阴性患者2例.比较JAK2基因突变ET与CALR基因突变ET临床及实验室特点,采用Nikon cclipsc显微镜进行病理切片观察,每个病理切片取10个不同高倍视野进行巨核计数,巨核细胞集簇数并测量每个高倍视野最大巨核细胞直径。结果:ET患者中,CALR突变组与JAK2突变组相比较,白细胞数、血红蛋白水平均明显降低(P=0.001,P=0.001),男性血小板数明显升高(P=0.04);每高倍镜视野中巨核细胞平均值明显降低(P=0.001),平均巨核细胞集簇数明显减少(P=0.001)。CALR突变组血栓事件显著低于JAK2突变组(7.5%vs 18.4%)(P=0.03)。结论:中国ET患者中,CALR基因突变者较JAK2基因突变者临床特征和血液病理改变存在差异,临床意义值得探索。

Objective:To investigate the clinical characteristics,laboratorial and bone marrow pathological features of primary thrombocytopenia(ET)patients with different mutations of CALR,JAK2 and MPL genes.Methods:The chinical data of 120 cases of ET in Jiangsu provincial people’s hospital/The First Affiliated Hospital of Nanjing Medical University from January 2015 to December 2017 were collected and analyzed,including 76 cases with JAK2 gene mutation,40 cases with CALR gene mutation,2 cases with MPL gene mutations,2 cases without gene mutation.Results:Among the ET patients,compared with the JAK2 gene mutation,CALR gene mutation showed statistically significant deareament of white blood cells and hemoglobin(P=0.001,P=0.01)and the male platelets in CALR group showed significant increament(P=0.04).Fourthermore,the average number of megakaryocytes and its cluster numbers in each hight power field of vision showed statistically significant decreament in CALR group as compared with JAK2 group(P=0.001,P=0.001),and thrombotic events in CALR group were signicantly lower than those in JAK2 group(7.5%vs 18.4%)(P=0.03).Conclusion:Mutations of CALR,JAK2 have different clinical characteristics and blood pathological changes of Chinese ET patients,and their clinical significance is worth to explore.