荧光原位杂交技术在骨髓增生异常综合征预后因素分析中的应用

Application of fluorescence in situ hybridization in the analysis of prognostic factors in patients with myelodysplastic syndrome

目的探讨骨髓增生异常综合征(MDS)患者年龄、遗传学核型及是否转化为白血病等因素对预后的影响。方法对50例骨髓增生异常综合征患者进行常规细胞遗传学核型分析并对5、7、8号染色体进行荧光原位杂交(FISH)检测,运用单因素Cox回归模型分析年龄、遗传学核型及是否转化为白血病等因素对患者生存率的影响。结果 50例MDS患者中19例常规细胞遗传学核型分析法检出异常,30例患者经FISH检出异常,FISH法检出阳性率高于常规方法,差异有统计学意义(P<0.05)。Cox回归模型分析显示65岁以上患者、遗传学核型异常者、转化为白血病的患者死亡风险分别高于65岁以下患者、遗传学核型正常者、未转化为白血病的患者(P均小于0.05)。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。MDS患者的细胞遗传学核型异常及转归是影响患者预后的重要危险因素。

Objective To investigate the effects of several factors such as age,genetic karyotype,and the leukemia transformation on the prognosis in patients with myelodysplastic syndrome（MDS）.Methods The routine genetic karyotype analysis and the method of fluorescence in situ hybridization（FISH） for chromosome 5,7,8 were used in 50 patients with MDS.The effects of age,genetic karyotype as well as leukemia transformation on prognosis were then studied by Cox regression singlevariate analysis.Results Nineteen abnormal genetic karyotype patients were found in 50 MDS patients,and 30 anomalous cases were detected by FISH.The positive rate of FISH was significantly higher than the genetic karyotype analysis,the difference was statistically significant（P0.05）.It was showed by Cox regression analysis that patients with the age of more than 65 and abnormal genetic karyotype as well as those leukemia transformed cases have a high risk of death than the rest patients（P0.05）.Conclusion The method of FISH can be used to detect abnormal clone cells sensitively.For MDS patients,the diagnosis and prognosis can be determined more exactly by combined using of routine genetic karyotype analysis and multi-probe detection.The abnormal cytogenetic karyotype and leukemia transformation are the key factors affecting the prognosis of MDS patients.