荧光原位杂交技术检测5、7、8号染色体异常在骨髓增生异常综合征患者的应用

目的 应用荧光原位杂交技术(FISH)检测骨髓增生异常综合征(MDS)患者的5、7、8号染色体,分析其改变的临床意义.方法 结合常规的细胞遗传学检查和FISH技术检测5、7、8号染色体.应用SPSS 11.5统计软件,对患者的遗传学异常及疾病的转归及预后进行分析.结果 30例患者常规遗传学检测与FISH检测结果如下:5号染色体异常为(6.7%)vs(16.7%);7号染色体异常为(6.7%)vs(16.7%);8号染色体异常为(16.7%)vs(30.0%).30例患者中存活13例,死亡15例,失访2例;其中9例转化为急性白血病.复杂核型及正常核型的缺失与患者的不良预后密切相关.结论 FISH技术能敏感地检测出小克隆异常,运用常规细胞遗传学技术结合多种探针进行分析,能对MDS患者的诊断、转归及预后进行更为准确的判断.

Application of fluorescence in situ hybridization technique detecting abnormalities of chromosome 5,7 and 8 in myelodysplastic syndrome

Objective To identify the abnormal karyotypes by fluorescence in situ hybridization（FISH） and explore prognostic implications in patients with myelodysplastic syndrome（MDS）.Methods Conventional chromosome analysis（CCA） and FISH were used to detect the frequently chromosome abnormalities（-5/5q-,-7/7q-,＋8） in 30 MDS cases,and to analyze the correction of karyotype abnormalities and progress,prognosis of disease by sorftware SPSS11.5.Results The karyotype abnormalities were detected by CCA and FISH as follow：-5/5q-（6.7%） vs（16.7%）;-7/7q-（6.7%） vs（16.7%）;＋8（16.7%） vs（30.0%）.Complex karyotypes were associated with the poor prognosis.Conclusion FISH was more sensitive than conventional cytogenetics for detecting mini-clonal abnormality.Multiprobes used in cytogenetic detections may predict the patients′ prognosis more accurately.