组合探针FISH在3种恶性血液病中的诊断价值  

Value of a Panel Fluorescence in Situ Hybridization in Three Kinds of Hematological Malignancies

作　　者：秦尤文[1] 王小蕊[1] 杨一宁[1] 王椿[1] 

机构地区：[1]上海交通大学附属第一人民医院血液科,上海200080

出　　处：《中国实验血液学杂志》2016年第5期1289-1293,共5页Journal of Experimental Hematology

摘　　要：目的：评估组合探针FISH（Panel-FISH）在检测慢性淋巴细胞白血病（CLL）、多发性骨髓瘤（MM）和骨髓增殖异常综合征（MDS）常见细胞遗传学异常中的价值。方法：采用分别针对3种疾病的组合探针,对46例CLL、53例M M和93例M DS患者进行FISH检测,并与常规细胞遗传学分析结果进行比较。结果：在CLL和M M组中,Panel-FISH的异常检出率明显高于核型分析（73.8%vs 9.5%;70.8%vs 22.9%）,两组均存在显著性差异（χ2=35.7,P〈0.001;χ2=22.1,P〈0.001）。在M DS组中,Panel-FISH的异常检出率与核型分析相仿（30.4 vs27.2%）,无显著性差异（χ2=0.043,P=0.625）。结论：Panel-FISH能显著提高CLL和M M患者的异常检出率。虽然不能提高MDS患者的总体异常检出率,但对分裂象较少或核型分析失败的MDS患者有辅助诊断意义。Objective：To evaluate the role of a panel fluorescence in situ hybridization（Panel-FISH） for the detection of common cytogenetic abnormalities in patients with chronic lymphoblastic leukemia（CLL）,multiplemyeloma（MM） and myelodysplastic syndrome（MDS）.Methods：Three panels of probes were used to perform FISH assays in 46 patients with CLL,53 with MM and 93 with MDS.Their results were compared with that obtain by conventional cytogenetic examination.Results：The panel FISH detection in CLL and MM groups showed significantly higher sensitivity in revealing chromosomal abnormalities than that in conventional cytogenetics（73.8%vs9.5%,70.8%vs 22.9%,respectively）.There were significant differences between these 2 technologies（P〈0.001,P〈0.001,respectively）.However,there was no difference between Panel-FISH and conventional cytogenetics in MDS group（30.4 vs 27.2%,P=0.625）.Conclusion：Panel-FISH can increase the detection rate in CLL and MM patients while it did not in MDS patients.However,it can increase the detection rate of aberration clones in MDS cases with normal karyotypes or without enough karyotypes to be analysis.

关 键 词：慢性淋巴细胞白血病 多发性骨髓瘤 骨髓增生异常综合征 组合探针荧光原位杂交 核型分析 

分 类 号：R733[医药卫生—肿瘤] R738.1[医药卫生—临床医学]