荧光原位杂交技术在慢性淋巴细胞白血病检测中的应用评估

Evaluation of Fluorescence in situ Hybridization Value in Detection of Chronic Lymphocytic Leukemia

本研究探讨与评估应用间期荧光原位杂交技术(FISH)检测慢性淋巴细胞白血病(CLL)遗传学异常的价值。应用间期FISH技术检测32例初诊CLL患者的del(13q14.3)、del(11q22.3)、del(17p13.1)、del(13q14)和12号染色体三体,同时对免疫表型不典型的10例初诊患者检测IGH/CCND1融合基因。结果表明,在32例病例组中FISH检测出26例(81.3%)基因异常,包括D13S25缺失14例,RB1缺失11例,12号染色体三体9例,P53缺失6例,ATM缺失4例;涉及1种基因异常的12例,其中12号染色体三体7例,D13S25缺失3例,P53缺失1例,ATM缺失1例;涉及2种基因异常的11例,其中D13S25/RB1缺失的7例,另4例均包含P53缺失;涉及3种以上基因异常的病例3例;10例免疫表型表达CD5+CD23-的初诊患者中2例IGH/CCND1(+)。结论:应用间期FISH技术检测CLL基因组的异常,可大大提高异常染色体的检出率,各基因异常有其不同的特点;IGH/CCND1融合基因的检测在CLL诊断中有重要意义。

The aim of this study was to investigate the clinical value of fluorenscence in situ hybridization（FISH） in detecting the genomic aberration of chronic lymphocytic leukemia（CLL）.FISH was used for 32 patients who were newly diagnosed as CLL.Five types of fluorescence probes with labeled DNA probes were included as sequence specific probes D13S25 for 13q14.3,P53 for 17p13.1,ATM for 11q22.3,RB1 for 13q14 and chromosomes 12.Meanwhile,FISH was used to detect IGH/CCND1 fusion gene in 10 CLL patients with untypical immunophenotypes.The results showed that out of 32 patients,26 cases（81.3%） were abnormal including 14 cases of D13S25 deletion,11 of RB1 deletion,9 of trisomia 12,6 cases of P53 deletion,and 1 of ATM deletion.12 cases showed 1 kind of genomic aberration,including 7 cases of trisomia 12,3 cases of D13S25 deletion,1 of P53 deletion,1 of ATM deletion.11 eases displayed 2 kinds of abnormalities.Out of 11 cases,7 were D13S25/RB1 deletion,4 were of P53 deletion,and 3 cases had 3 kinds of abnormalities.Among 10 patients with CD5＋CD23-,two were positive with IGH/CCND1.It is concluded that the FISH can improve the detecting of chromosomal abnomalities in CLL,and every abnormality has its special feature.Detection of IGH/CCND1 seems important in diagnoses of CLL.