荧光原位杂交技术与细胞遗传学分析在骨髓增生异常综合征患者-5/5q-和-7/7q-检测中的评价应用

Detection of -5/5q- and -7/7q- in Myelodysplastic Syndromes by Fluorescence in Situ Hybridization and Cytogenetic Analysis

目的 比较常规细胞遗传学分析（CCA）及荧光原位杂交（FISH）两种技术在骨髓增生异常综合征（MDS）染色体异常检测中的灵敏度和特异度.方法 40例MDS患者,CCA法采用骨髓短期培养法,核型分析采用R带技术.FISH法采用间期FISH,选取4组探针组合检测-5/5q-和-7/7q-.结果 采用CCA法,5号和7号染色体异常检出率为17.5%,而利用FISH技术,阳性率为35.0%.5号,7号染色体异常检出率分别由7.5%,10.0%升至15.0%,20.0%.两种方法之间的差异无统计学意义（P〉0.05）.结论 CCA结合FISH能提高MDS染色体异常的检出率,与CCA相比,采用组合探针的FISH更为敏感和特异.

Objective To compare the sensitivity and specificity of conventional cytogenetie analysis（CCA） and fluorescence in situ hybridization（FISH） technique in the detection of MDS. Methods Bone marrow cells from 40 patients were analyzed with CCA and FISH. Results Using CCA,karyotype abnormalities were found in 7 of 40 cases（17. 5%） ,and 14 of 40 cases （35%） were detected karyotype abnormalities by FIStt. There was no significant difference between CCA and FISH（ P〉 0.05）. Conclusion Combination of CCA and FISH could help the diagnosis and prognosis of MDS. FISH is more sensitive and specific for detection of chromosome abnormalities in MDS than CCA.