FISH、核型分析及骨髓活检在MDS中的应用分析

Application of fluorescence in situ hybridization,karyotype analysis and bone marrow biopsy in MDS

目的分析荧光原位杂交技术(FISH)在染色体异常原因引起的骨髓增生异常综合征(MDS)诊断中的价值,分析染色体异常MDS发生的频率,分析FISH技术应用于鉴别诊断的可行性。方法使用骨髓细胞常规涂片检测、FISH技术以及常规核型分析对奉贤区20例骨髓增生异常综合征患者染色体异常的情况。结果20例MDS患者中FISH检测出异常为9例,阳性率为45.0%,其中5q-综合征(-5/5q-)4例(20.0%)、20q-1例(5.0%)、+82例(10.0%)、7q-综合征(7/7q-)1例(5.0%)。结论FISH在MDS诊断中较骨髓细胞常规涂片更有明确的诊断依据,染色体异常的检测阳性率较常规核型分析更高,可作为CC染色体异常的补充手段。

Objective To analyze the value of fluorescence in situ hybridization(FISH)in the diagnosis of Myelodysplastic syndrome(MDS)caused by chromosome abnormality,the frequency of MDS caused by chromosome abnormality,and the feasibility of FISH technique in differential diagnosis.Methods Twenty patients with myelodysplastic syndrome in fengxian district were examined by routine smear test,FISH technique and routine karyotype analysis.Results In 20 patients with MDS,9 cases were abnormal detected by fluorescence hybridization in situ,and the positive rate was 45.0%,including-5/5q-(4 cases,20.0%),20q-(1 case,5.0%),+8(2 cases,10.0%),-7/7q-(1 case,5.0%).Conclusion Compared with routine smear of bone marrow cells,FISH has more definite diagnostic basis in the diagnosis of MDS,and the positive rate of chromosome abnormality detection is higher than that of conventional karyotype analysis,which can be used as a supplementary means of CC chromosome abnormality.