急性B淋巴细胞白血病KMT2A::AFF1基因表达的临床特征分析  

Clinical features analysis of B-cell acute lymphoblastic leukemia with KMT2A::AFF1 gene expression

作　　者：张春玲 郭孟乔 王小蕊[1] 丁静 李会丹 李莉[1] Zhang Chunling;Guo Mengqiao;Wang Xiaorui;Ding Jing;Li Huidan;Li Li(Department of Laboratory Medicine,Shanghai General Hospital,Shanghai 200080,China;Hematology Department,Naval Medical University Affiliated First Hospital,Shanghai 200082,China)

机构地区：[1]上海交通大学附属第一人民医院检验科,上海200080 [2]海军军医大学附属第一医院血液内科,上海200082

出　　处：《中华检验医学杂志》2023年第12期1291-1297,共7页Chinese Journal of Laboratory Medicine

基　　金：科技部国家重点研发计划(2022YFC2009604);上海市第一人民医院临床研究创新团队项目(CTCCR-2019D04)。

摘　　要：目的分析伴KMT2A::AFF1基因阳性急性B淋巴细胞白血病(B-ALL)的临床特点与患者预后及其预后风险因素的相关性。方法回顾性队列研究。纳入2011年4月1日至2022年7月31日上海市第一人民医院和海军军医大学附属第一医院收治的B-ALL病例167例,按照基因类型进行分组。KMT2A::AFF1基因阳性B-ALL病例22例作为实验组,BCR::ABL基因阳性B-ALL 54例作为对照组1和91例KMT2A::AFF1及BCR::ABL基因阴性B-ALL作为对照组2。实验组、对照组1和对照组2的首诊中位年龄分别为43.5(30.5,56)岁、43.5(34,55)岁和32(24,46)岁。三组中位白细胞计数分别为142.4(25.7,247.2)×109/L、37.6(15.7,102.2)×109/L和13.4(4.3,33.0)×109/L。三组骨髓异基因造血干细胞移植(allo-HSCT)率分别为45.5%、72.2%和72.5%。运用SPSS 26.0软件,采用非参数检验的秩和检验、卡方检验、Kaplan-Meier及Cox回归的统计学方法,分析比较试验组与对照组间患者的临床特征、化疗和预后的差异,分析实验组风险因素及allo-HSCT预后差异。结果实验组与对照组2的年龄差异有统计学意义(Z=-2.151,P=0.031);实验组白细胞计数明显高于对照组1组(Z=-2.363,P=0.018)和对照组2(Z=-4.886,P<0.001);实验组的allo-HSCT率低于对照组1(45.5%比72.2%,χ^(2)=4.890,P=0.027)和对照组2(45.5%比72.5%,χ^(2)=5.897,P=0.015)。三组一个疗程缓解率分别为60%(12/20)、83.3%(45/54)及76.7%(69/90),两个疗程化疗缓解率分别为25%(5/20)、7.4%(4/54)、12.2%(11/90),两个疗程以上或未缓解率分别为15%(3/20)、9.3%(5/54)、11.1%(10/90)。实验组较对照组1化疗效果差(Z=-1.979,P=0.048)。3组在性别、染色体是否为标危核型、初发时血红蛋白、血小板计数及骨髓原始细胞百分比差异无统计学意义。实验组总生存(OS)率低于对照组1和对照组2(23.9%比36.7%,χ^(2)=7.608,P=0.006和23.9%比44.8%,χ^(2)=6.442,P=0.011),3年无复发生存(RFS)也低于其他两组(14.0%比57.6%,χ^(2)=17.823,P<0.001和14.0%比48.Objective To analyze the correlation between clinical features and prognosis or prognostic risk factors in patients with KMT2A::AFF1 gene positive B-ALL.Methods Retrospective cohort study was conducted.167 cases of B-ALL admitted to the Shanghai General Hospital and the Naval Medical University Affiliated First Hospital from April 1,2011 to July 31,2022 were divided into groups according to gene types.22 cases with KMT2A::AFF1 positive B-ALL were enrolled as the experimental group,54 cases with BCR::ABL gene positive B-ALL as control group 1 and 91 cases with KMT2A::AFF1 and BCR::ABL gene negative B-All as control group 2.The median age of first diagnosis in the experimental group,control group 1 and control group 2 were 43.5(30.5,56),43.5(34,55)and 32(24,46)respectively.The median white blood cell counts of the three groups were 142.4(25.7,247.2)×109/L,37.6(15.7,102.2)×109/L and 13.4(4.3,33.0)×109/L,respectively.Allo-HSCT rates in three groups were 45.5%,72.2%and 72.5%respectively.Using SPSS 26.0 software,the statistical methods of nonparametric rank sum test,chi-square test,Kaplan-Meier and Cox regression were used to analyze and compare the differences in clinical characteristics,chemotherapy and prognosis between the experimental group and the control groups,and to analyze the risk factors and the differences in prognosis of allo-HSCT in the experimental group.Results The age difference between the experimental group and the control group 2 was significant(Z=-2.151,P=0.031).The white blood cell count in experimental group was significantly higher than that in control group 1(Z=-2.363,P=0.018)and control group 2(Z=-4.886,P<0.001).The rate of allo-HSCT in experimental group was lower than that in control group 1(45.5%vs 72.2%,χ^(2)=4.890,P=0.027)and control group 2(45.5%vs 72.5%,χ^(2)=5.897,P=0.015).The remission rates of the patients in three groups after receiving one course of chemotherapy were 60%(12/20),83.3%(45/54)and 76.6%(69/90);the remission rates after two courses of chemotherapy were 25%(5/20),7

关 键 词：急性淋巴细胞白血病 KMT2A::AFF1基因重排 骨髓异基因造血干细胞移植 预后 

分 类 号：R733.71[医药卫生—肿瘤]