FLT3-ITD-mt和FLT3-ITD-wt初治原发AML患者外周血象和DNMT3A基因突变的临床特征对比  

Clinical Characteristics of Peripheral Hemogram and DNMT3A Gene Mutation in Patients with Primary AML Treated by FLT3-ITD-mt and FLT3-ITD-wt

作　　者：李敬东[1] 韩效林[1] 杨翠[1] 李昂[2] LI Jing-Dong;HAN Xiao-Lin;YANG Cui;LI Ang(Department of Hematology,The First Affiliated Hospital of Xinxiang Medical College,Weihui 453100,Henan Province,China;Queen Mary College,Nanchang University,Nanchang 330000,Jiangxi Province,China)

机构地区：[1]新乡医学院第一附属医院血液科,河南卫辉453100 [2]南昌大学玛丽女王学院,江西南昌330000

出　　处：《中国实验血液学杂志》2019年第6期1820-1824,共5页Journal of Experimental Hematology

摘　　要：目的:比较初治原发急性髓系白血病(AML)FMS样酪氨酸激酶3(FLT3)-内部串联重复野生型(ITD-wt)与突变型(FLT3-ITD-mt)患者临床特征的差异。方法:收集并回顾性研究本院2016年1月至2018年12月收治的108例初治原发AML患者的临床资料,根据是否伴有FLT3-ITD基因突变分为2组:A组(FLT3-ITD-wt)84例,B组(FLT3-ITD-mt)24例。对2组患者均行细胞形态学、分子生物学及免疫学分型检查,比较2组患者外周血红细胞数(RBC)、血红蛋白(Hb)水平、血小板数(Plt)、白细胞数(WBC)等血常规检查,骨髓原始细胞比例,FAB分型结果,融合基因分析及基因突变的发生情况等差异。结果:B组外周血Hb和RBC水平相比A组明显下降(P<0.05),WBC计数明显升高(P<0.01);而2组患者外周血Plt计数和骨髓原始细胞比例则无明显差异(P>0.05)。2组患者FAB分型结果无明显差异(P>0.05)。MLL-ELL、CBFβ-MYH11、PML-RARA及AML-ETO是初治原发AML患者的常见融合基因,而2组患者常见融合基因占比无明显差异(P>0.05)。本组108例患者共检出27种基因突变(包括FLT3-ITD在内);B组DNMT3A基因突变检出率相比A组明显升高(P<0.05);而2组其它基因突变检出率无明显差异(P>0.05)。结论:FLT3-ITD-wt与FLT3-ITD-mt初治原发AML患者临床特征存在一定差异;与FLT3-ITD-wt比较,FLT3-ITD-mt的初治原发AML患者外周血Hb与RBC较低,而外周血WBC较高,且DNMT3A基因突变较多见。Objective:To compare the clinical characteristics of FMS-like tyrosine kinase 3(FLT3)-internal tandem duplication wild type(ITD-wt)and mutant type(FLT3-ITD-mt)in patients with primary acute myeloid leukemia(AML).Methods:The clinical data of 108 patients with primary AML treated in our hospital from January 2016 to December 2018 were collected and retrospectively studied.According to the presence of FLT3-ITD gene mutation,Out of 108 patients,84 patients were enrolled in group A(FLT3-ITD-wt)and 24 patients in group B(FLT3-ITD-mt).Cell morphology,molecular biology and immunological typing were performed in both groups,and Routine blood tests,such as red blood cell(RBC),hemoglobin(Hb),platelet count(Plt),white blood cell(WBC),proportion of bone marrow primordial cells,FAB typing results,fusion gene and gene mutation were compared between the two groups.Results:Compared with group A,the levels of Hb and RBC in peripheral blood of group B decreased significantly(P<0.05)and WBC count increased very significantly(P<0.01),while there was no significant difference in the Plt count in peripheral blood and ratio of bone marrow primordial cells between the two groups(P>0.05).There was no significant difference in FAB classification between the two groups(P>0.05).MLL-ELL,CBFβ-MYH11,PML-RARA and AML-ETO were common fusion genes in primary AML patients,but there was no significant difference in the proportion of common fusion genes between the two groups(P>0.05).A total of 27 gene mutations(including FLT3-ITD)were detected in 108 patients in this group.Compared with group A,the detection rate of DNMT3 A gene mutation in group B significantly increased(P<0.05),while there was no significant difference in the detection rate of other gene mutations between the two groups(P>0.05).Conclusion:There are some differences in clinical characteristics between FLT3-ITD-wt and FLT3-ITD-mt in primary AML patients.Compared with FLT3-ITD-wt,Hb and RBC levels in peripheral blood of FLT3-ITD-mt patients with primary AML decrease,while WBC count

关 键 词：急性髓系白血病 基因突变 FMS样酪氨酸激酶3 内部串联重复 

分 类 号：R733.71[医药卫生—肿瘤]