染色体核型分析在骨髓增生异常综合征中的意义

目的：探讨骨髓增生异常综合征（MDS）患者染色体异常核型在MDS亚型中的分布及核型分析在该疾病向白血病转化和预后中的意义。方法：对57例MDS患者采用骨髓短期培养法制备染色体标本,并用G显带方法进行染色体核型分析。对所有患者根据国际预后积分系统评分和分组,采用Kaplan-Meier方法观察不同危险组的生存状况。结果：MDS患者中异常核型率为49.12%（28/57）。28例异常核型患者中伴有＋8异常8例,t（8;21）易位4例,20q-2例,少见的重现性异常i（20q-）1例,复杂核型7例,未见5q-核型。随访的42例患者中,14例死亡,5例转化为急性白血病。结论：核型分析在MDS患者向白血病转化及预后中有重要意义。某些特殊的核型可能具有独立的预后意义。

Siginificance of chromosomal karyotype analysis in myelodysplastic syndrome

Objective:To investigate the distribution of chromosomal aberrational karyotype in myelodysplastic syndrome(MDS)subgroups,and study the siginificance of karyotype analysis in the transformation into leukemia and prognosis of MDS.Methods:The chromosome was prepared with brief culture of bone marrow,and the karyotype was analysed by G banding technique.All the patients were scored and grouped by the International Prognostic Scoring System,and the survival situation of different groups was observed by the Kaplan-Meier method.Results:Twenty eight out of 57 patients had clonal chromosome aberrations.Among the 28 aberrational chromosome, 8 presented in 8 cases,t(8;21)translocation in 4 cases,20q-in 2 cases,i(20q-)which was an rare recurrent chromosome abnormality in 1 case,and complex karyotype in 7 cases,but 5q-was not found in all the patients.Among the 42 followed-up patients,14 patients died and 5 patients turn into acute leukemia.Conclusion:Karyotype analysis is very important in the change into leukemia and forecast the prognosis of MDS.Some special karytypes may have independent prognostic significance.