骨髓增生异常综合征的临床与细胞遗传学研究

Analysis the clinic and cytogenetics of myelodysplastic syndrome

目的研究骨髓增生异常综合征(myelodysplasticsyndrome,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。

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 translocafion 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.