急性白血病伴11q23/MLL基因易位和扩增临床特点  

CLINICAL FEATURES OF ACUTE LEUKEMIA WITH 11Q23/MLL TRANSLOCATIONS OR AMPLIFICATIONS

作　　者：赵喜晨 孙晓云 伊丽安 赵丽 鞠波 赵洪国[3] ZHAO Xichen;SUN Xiaoyun;YI Li'an;ZHAO Li;JU Bo;ZHAO Hongguo(Department of Hematology,Qingdao West Coast New Area Central Hospital,Qingdao,266555,China;不详)

机构地区：[1]青岛西海岸新区中心医院血液科,山东青岛266555 [2]青岛市黄岛区中医院 [3]青岛大学附属医院血液科

出　　处：《青岛大学学报（医学版）》2019年第6期679-684,共6页Journal of Qingdao University(Medical Sciences)

基　　金：青岛经济技术开发区科技发展计划项目(2014-1-95)

摘　　要：目的研究急性白血病(AL)伴混合系列白血病(MLL)基因易位和扩增的临床特点。方法初治成人AL病人112例,取其骨髓细胞经24 h短期培养,常规方法制备染色体标本,R显带行染色体核型分析;使用位点特异性识别(LSI)11q23/MLL双色分离DNA探针行间期荧光原位杂交(FISH),对异常信号者行中期FISH确定11q23/MLL异常。分析MLL基因易位和扩增者临床特征。结果FISH显示112例AL病人中9例(8.04%)存在11q23/MLL基因易位,8例(7.14%)存在MLL基因扩增。两者显示相似的临床特点:髓外浸润发生率高,对细胞毒药物敏感性低,治疗后早期复发率高,生存期短,预后不良。病人通常诊断为B-祖细胞急性淋巴细胞白血病、急性单核细胞白血病或双表型急性白血病。急性淋巴细胞白血病高表达CD34,急性髓系白血病高表达CD117、CD56、CD11b和CD64并有明显骨髓病态造血。MLL基因扩增病人发病年龄较大、外周血白细胞计数较低,有更明显的病态造血。结论11q23/MLL基因易位和扩增的成人AL病人具有相似的临床特点,MLL基因在AL发病中为功能获得性异常。Objective To investigate the clinical features of acute leukemia(AL)with mixed-lineage leukemia(MLL)gene translocations or amplifications.Methods Bone marrow cells were collected from 112 previously untreated adult patients with AL,and then cultured for a short period of 24 h followed by conventional chromosome preparation.The R-banding technique was applied for karyotype analysis.Interphase-fluorescence in situ hybridization(FISH)was used to detect gene abnormalities using the locus-specific identifier 11q23/MLL dual-color break-apart probe.Abnormal signals of the 11q23/MLL screened out by interphase-FISH would be further determined by metaphase-FISH.The clinical features of the patients with MLL translocations or amplifications were analyzed.Results The 11 q 23/MLL translocations were observed in 9 cases(8.04%)and MLL amplifications in 8 cases(7.14%)of all the 112 AL patients according to FISH.There were similar clinical features between the patients with 11 q 23/MLL translocations and those with 11 q 23/MLL amplifications:a high incidence of extramedullary infiltration,a low sensitivity to cytotoxic drugs,a high early recurrence rate after treatment,a short survival time,and a poor prognosis.The patients with MLL gene abnormalities were frequently diagnosed with B-progenitor acute lymphoblastic leukemia,acute monocytic leukemia,or biphenotypic acute leukemia.A high expression of CD34 was observed in acute lymphoblastic leukemia,while a high expression of CD117,CD56,CD11b,and CD64 along with obvious dysplasia was observed in acute myeloid leukemia.The patients with MLL amplifications had an older age of onset,a relatively low white blood cell count,and more obvious dysplasia.Conclusion There are similar clinical features between AL patients with MLL translocations and MLL amplifications.The MLL gene develops gain-of-function abnormalities in the pathogenesis of AL.

关 键 词：白血病 双表型 急性 易位 遗传 基因扩增 

分 类 号：R733.71[医药卫生—肿瘤]