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目的探讨应用组合荧光原位杂交(panelfluorescenceinsituhybridization,panelFISH)技术对慢性淋巴细胞性白血病(chroniclymphocyticleukaemia,CLL)基因组异常检测的价值。方法分别应用3号、12号、18号的着丝粒探针和序列探针D13S272(13q14.3)、ATM(11q23)等5种荧光素标记的DNA探针,对22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,以确定何种方法对检测CLL的染色体和基因组异常更为敏感可靠。结果22例CLL患者中,常规细胞遗传学检测出8例(36.3%)有染色体异常,包括单纯+123例;+3、+121例;+3、+12、+181例;t(5;15)1例;13q-1例;3q-、18p+1例;4q+和13q-1例;组合FISH检测出15例(68,1%)有染色体异常,包括+34例、+126例、+181例、11q-6例、13q-8例。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。
Objective To investigate the value of panelfISH fluorescence in situ hybridization (panelFISH) in the detection of abnormal genomic abnormalities in chronic lymphocytic leukemia (CLL). METHODS: Twenty-two CLL patients underwent FISH with three kinds of fluorescein-labeled DNA probes: centromere probes 3, 12, 18 and sequence probes D13S272 (13q14.3) and ATM (11q23) Test, and compared with the conventional cytogenetic test results to determine which method is more sensitive and reliable for detecting chromosomal and genomic abnormalities in CLL. Results Of the 22 CLL patients, 8 (36.3%) had chromosomal abnormalities detected by conventional cytogenetics, including + 123 cases, +3, +121 cases, +3, +12, 15 cases (1%), 13q-1 cases, 3q-, 18p + 1 cases, 4q + and 13q-1 cases. FISH detected 15 cases (68.1%) with chromosomal abnormalities including +34 cases, +181 cases, 11q-6 cases, 13q-8 cases. Conclusions Combined FISH is an effective method to detect chromosomal abnormalities in CLL patients. Combined with conventional cytogenetics, the detection of CLL chromosome abnormalities can be significantly improved.