间期荧光原位杂交检测核心结合因子相关急性白血病的初步研究  

Detection of core-binding factor in acute leukemia with interphase fluorescence in situ hybridization

作　　者：刘晓力[1] 杜庆锋[1] 宋兰林[1] 张嵩[1] 李荣[1] 林榕[1] 刘启发[1] 周淑芸[1] 

机构地区：[1]第一军医大学南方医院血液科,广东广州510515

出　　处：《第一军医大学学报》2003年第10期1038-1041,共4页Journal of First Military Medical University

基　　金：国家863计划基金(2001AA227071);广东省自然科学基金(C020086)~~

摘　　要：目的应用间期荧光原位杂交技术(I-FISH)检测初诊急性白血病患者中核心结合因子(CBF)受累的染色体异常情况并对治疗后患者的微小残留病(MRD)进行监测,同时对I-FISH与常规染色体G显带的灵敏度进行比较。方法在骨髓形态学初筛的基础上,应用常规染色体G显带技术对15例急性髓系白血病(AML)进行核型分析,应用I-FISH对患者可能受累的CBF相关靶基因进行检测,其中7例患者治疗后进行了MRD监测。结果(1)正常对照组中,CYTOCELL公司提供的3种探针(AML1/ETO易位探针、MYH11基因断裂点双色探针和ETV6/AML1易位探针)的正常分界值分别为4.13%、1.95%和2.12%。(2)常规染色体G显带分析,15例患者中有6例伴有潜在累及CBF基因的染色体异常,其中8例AML-M2中5例伴t(8;21),2例AML-M4EO中1例伴inv(16),5例儿童B系急性淋巴细胞白血病(B-ALL)未检出相应的异常。I-FISH检测15例患者发现有12例累及CBF基因,其中8例AML-M2患者均为AML1/ETO融合基因(+),2例AML-M4EO病人CBFβ/MYH11融合基因均为(+),5例儿童B-ALL中2例ETV6/AML融合基因(+)。(3)3例AML-M2患者中2例MRD阳性;2例M4E0患者治疗后MRD监测结果均阴性;2例B-ALL患者1例阴性,1例阳性。结论I-FISH较常规染色体G显带技术能够更灵敏地检测出累及CBF的急性白血病,在初诊时联合应用这两种?Objective To detect the chromosomal abnormalities involving the core-binding factor (CBF) in acute leukemia at initial diagnosis with interphase in situ hybridization (I-FISH) technique, and monitor the minimal residual disease (MRD) after treatment with I-FISH. This study also aim to compare the sensitivity of I-FISH at initial diagnosis with that of conventional G-banding analysis. Methods Based on the diagnosis of bone marrow morphology, 15 acute leukemia patients were examined with conventional G-banding and I-FISH techniques. Seven of these patients were monitored for MRD with I-FISH after treatment. Results On the basis of the false-positive rate acquired from normal subjects, the normal cutoff values of the 3 probes including AML1/ETO translocation probe, MYH11 breakpoint region probe and ETV6/AML1 translocation probe were 4.13%, 1.95% and 2.12% respectively. With conventional G-banding analysis, 40% (6/15) patients were found with chromosomal abnormality involving CBF, including 5 of the 8 M2 patients with t (8;21) and 1 of the 2 M4EO patients with inv (16). No B-ALL cases were identified with t (12;21). With I-FISH, however, 80% (12/15) of the cases were found with genetic abnormality involving CBF, including all the 8 M2 cases with AML1/ETO fusion gene, both of the M4EO cases with CBFβ/MYH11 and 2 of the 5 B-ALL cases with ETV6/AML1. In the 7 cases monitored for MRD level with I-FISH, 2 M2 cases and 1 B-ALL case were with positive results. Conclusions I-FISH is more sensitive than conventional G-binding analysis in detecting the chromosomal abnormalities involving CBF in acute leukemia. At the time of initial diagnosis, combination of the two techniques may lead to more comprehensive and accurate results.

关 键 词：间期荧光原位杂交 检测 核心结合因子 急性白血病 染色体异常 

分 类 号：R733.7[医药卫生—肿瘤]