应用组合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

Genomic abnormalities detected by panel fluorescence in situ hybridiz ation in chronic lymphocytic leukaemia

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 panel flu or escence in situ hybridization for detection of genomic aberrations in chr onic lymphocytic leukemia(CLL). Methods Five types of fluores cein-labelled DNA probes including centromeric probes for chromosomes 3,12 and 1 8, and two sequence-specific probes D13S272 for 13q14.3 and ATM for 11q23 were used to perform fluorescence in situ hybridization (FISH) assays in 22 patients with CLL. Its results were compared with that of conventional cytogenetic (CC) e xamination in order to ascertain which method is more sensitive and reliable for the detection of chromosomal and genomic abnormalities in CLL. Results On CC examination, only 8 cases (36.3%) w ere found to have chromosomal abnormalities including sole trisomy 12 in 3 cases , simultaneous trisomies 3 and 12 in one case, simultaneous trisomies 3, 12 and 1 8 in one case, translocation between chromosomes 5 and 15 in one case, deletion of 13q14.3 in one case, 3q- and 18p+ in one case, 4q+ and 13q- in one case, where as on panel FISH assay, 15 cases (68.1%) were found to have genomic aberrations including trisomy 3 in 4 cases, trisomy 12 in 6 cases, trisomy 18 in one case, d eletion of 13q14.3 in 8 cases, deletion of 11q23 in 6 cases. Conclusion Panel FISH is a useful method for detection of genomic aberration in CL L, if combined with CC, it can obviously enhance the detection rate of chromos omal abnormalities in CLL.