应用荧光原位杂交技术检测慢性淋巴细胞白血病的基因组异常

目的 探讨应用组合荧光原位杂交(panel fluorescence in situ hybridization,panel FISH)技术对慢性淋巴细胞白血病(chronic lymphocytic leukaemia,CLL)基因组异常检测的价值.方法 分别应用序列探针D13S25(13q14.3)、RB1、p53、ATM(11q23)和着丝粒探针12号(CSP12)等5种荧光素标记的DNA探针,对17例CLL患者进行FISH检测,并和常规细胞遗传学检测结果进行比较.结果 17例CLL患者中,常规细胞遗传学检测出1例(1/17)有染色体异常,为49,XX,+3,+8,+18;组合FISH检测出10例(10/17)有染色体异常,包括D13S25缺失4例、ATM缺失2例、p53缺失1例、D13S25合并RB1同时缺失2例、多种异常1例.FISH检测的总检出率高于常规细胞遗传学检测.结论 组合FISH技术是检测CLL患者染色体基因组异常的有效手段,与常规细胞遗传学方法相结合则可明显提高CLL染色体异常的检出率.

Detection of genomic abnormalities in chronic lymphocytic leukemia by fluorescence in situ hybridization

Objective To investigate the value of panel fluorescence in situ hybridization (panel FISH)for detection of genomic aberrations in chronic lymphocytic leukemia(CLL). Methods Five types of fluorescein-labelled DNA probes including five sequence specific probes D13S25 for 13q14. 3, RB1, p53, ATM (11 q23)and centromeric probe for chromosome (CSP12) were used to perform fluorescence in situ hybridization assays in 17 patients with CLL. Its results were compared with that obtain by conventional cytogenetic (CC)examination. Results In 17 patients with CLL, CC examination showed that only one case (1/17) was found to have chromosomal abnormality that was simultaneous trisomies 3,8 and 18, whereas panel FISH assay showed that 10 cases (10/17) were found to have genomic aberrations including deletion of D13S25 in 4 cases,deletion of ATM in 2 cases,deletion of p53 in 1 case,deletion of D13S25 combined RB1 in 1 case and 1 case with a variety of abnormalities. Conclusions Panel FISH is a useful method for detection of genomic aberration in CLL If it is combined with CC,it can obviously enhance the detection rate of chromosomal abnormalities in CLL.