荧光原位杂交技术与常规染色体分析检测骨髓增生异常综合征患者+8和20q-异常

目的 比较常规细胞遗传学分析(CCA)及荧光原住杂交(FISH)两种技术在骨髓增生异常综合征( MDS)患者8号和20号染色体异常检测中的应用.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,选取探针组合检测+8和20q-.结果 采用CCA法,+8和20q-检出率分别为7.5％(3/40)和7.5％ (3/40),而利用FISH技术,+8和20q-检出率分别为12.5％(5/40),20.0％ (8/40).采用FISH可以提高8号和20号染色体异常的检出率,但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患者染色体异常的检出率,与CCA比较,采用组合探针的FISH更为敏感和特异.

Detection of +8 and 20q- in myelodysplastic syndrome patients by fluorescence in situ hybridization and cytogenetic analysis

Objective To compare the sensitivity and specificity of conventional cytogenetic analysis(CCA) and fluorescence in situ hybridization(FISH) technique in the detection of myelodysplastic syndrome(MDS).Methods Bone marrow cells from 40 patients were analyzed with CCA and FISH.Results Using CCA,+8 and 20q-was found in 3 of 40 cases(7.5%);Using FISH,+8 was found in 5 of 40 cases(12.5%),and 20q-was found in 8 of 40 cases(20.0%).There was no significant difference between CCA and FISH(P>0.05).Conclusion Combination of CCA and FISH could help the diagnosis of MDS.FISH is more sensitive and specific for detection of chromosome abnormalities in MDS than CCA.