应用FISH技术检测慢性淋巴细胞白血病ATM和RB1基因缺失  

Detection of ATM and RB1 Deletion in Chronic Lymphocytic Leukemia by Fluorescence In Situ Hybridization

作　　者：赵丽[1] 金梦迪[1] 李婷[1] 李娟[1] 杨柳[1] 朱江[1] 蒲育栋[1] 王子妍[1] 

机构地区：[1]兰州大学第一医院中心实验室,兰州市730000

出　　处：《中国肿瘤临床》2010年第8期440-443,共4页Chinese Journal of Clinical Oncology

基　　金：国家卫生部科研基金资助(编号:WKJ2007-3-001)~~

摘　　要：目的:探讨慢性淋巴细胞白血病(CLL)中11q22.3(ATM基因)和13q14(RB1基因)的缺失情况以及荧光原位杂交(fluorescencein situ hybridization,FISH)技术检测慢性淋巴细胞白血病(CLL)染色体异常的价值,了解CLL的分子遗传学特性。方法:分别用ATM和RB1探针,运用荧光原位杂交(FISH)技术对10例CLL确诊患者的11q22.3和13q14染色体进行检测,并和常规细胞遗传学(Conventional cytogenetics,CC)检测方法,即G显带法进行比较。结果:10例CLL患者常规细胞遗传学检出2例,其中t(5,9),t(10,12)和+12各1例;而FISH方法检出7例至少有一种分子遗传学异常,del(11q22.3)4例,纯合缺失2例,del(13q14)7例,纯合缺失2例。10例患者中4例同时有del(11q22.3)和del(13q14)这2种染色体异常。结论:FISH是一种在分析CLL染色体异常方面较为快速、准确和敏感的有效技术,可提高染色体异常检出率,为CLL提供较为准确的分子细胞遗传学信息,指导临床与预后分析。Objective：To investigate the incidence of 11q22.3 （ATM） and 13q14 （RB1） deletion Edel （11q22.3）, del （13q14）1 in chronic lymphocytic leukemia （CLL） and to explore the characteristics of molecular cytogenetics of chronic lymphocytic leukemia （CLL）. Methods： Probes ATM and RB1, and fluorescence in situ hybridization （FISH） were applied to detect the del （11q22.3） and del （13q14） in 10 CLL cases. The results were compared with those of conventional cytogenetic （CC） G banding. Results： In the 10 cases of CLL, 2 cases were found with abnormalities, including t （5, 9） and t （10, 12） in 1 case and. 12 in 1 case. Seven cases had at Least one type of molecular cytogenetic aberrations detected by FISH. Four cases were detected with del （11q22.3）, and 2 of them showed homogenous deletion. Seven cases were found with del（13q14） and 2 of them showed homogenous deletion. Of the 10 CLL cases, 4 had both del （11q22.3） and del （13q14）. Conclusion： FISH is a rapid, accurate and sensitive technique in detecting chromosome aberration and can provide valuable information of molecular cytogenetics of CLL.

关 键 词：慢性淋巴细胞白血病 荧光原位杂交 ATM缺失 RB1缺失 

分 类 号：R737.31[医药卫生—肿瘤]