骨髓增生异常综合征的临床与细胞遗传学研究

目的研究骨髓增生异常综合征（myelodysplastic syndrome，MDS）的细胞遗传学、血液学与预后的相互关系。方法采用骨髓直接法和24小时短期培养法制备染色体标本，用R显带技术，对50例MDS进行核型分析。结果50例MDS中，发现有异常核型22例，发生率44．0％（22／50）。异常类型6种：2例add（8）；4例-7；4例5q-；9例7q-；2例20q-；1例6q-。结论5q-，-7，7q-是MDS中最为常见的染色体核型异常，伴有5q-染色体核型异常的预后较好，而伴有-7，7q-核型异常的预后不良。细胞遗传学在MDS的诊断、病情发展和预后判断中有着至关重要的作用。

Analysis the clinic and cytogenetics of myelodysplastic syndrome

Objective To analysis the relationship among cytogenetics,morphology and prognosis of the myelodysplastic syndrome(MDS)patients.Methods Cytogenetics analysis of bone marrow cells was performed by direct method and/or 24 h culture method.The karyotype was analysed by R banding technique.Results Out of the 50 MDS patients,22 were found with abnormal karyotype:two of them were +8,four of them were-7,four of them were 5q-,nine of them were 7q-,two of them were 20q-and one of them was 6q-.There are six patients had complex changes in chromosome.Conclusion 5q-,-7,7q-are the most classic translocation in the MDS.The patients with 5q-have better prognosis and the patients with-7,7q-have worse prognosis.Cytogenetics is very important in the MDS's diagnosis,progress and prognosis.