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目的:研究老年骨髓增生异常综合征(myelodysplastic syndrome,MDS)患者的细胞遗传学和生存期的相互关系。方法:采用直接法和短期培养法制备染色体标本后用R显带技术进行染色体核型分析,SPSS软件分析自1998年1月～2007年12月的40例老年MDS患者的WHO分类、染色体核型类型与生存期的关系。结果:40例发现异常核型22例,发生率55.0%(22/40)。异常类型5种:3例+8;3例-7;4例5q-;8例7q-;4例20q-;其中8例有两种以上染色体异常。总的中位生存期为20个月,不同核型组的中位生存期:正常核型组为18个月,5q-组为48个月,-7、7q-组为12个月,其它核型异常组为30个月。按WHO分类,各组中位生存期:RA型为35个月,RARS型为48个月,RAEB1为17个月,RAEB215个月。结论:5q-、-7、7q-是老年MDS中最为常见的染色体核型异常,伴有5q-核型异常的染色体预后较好,而伴有-7、7q-核型异常的染色体预后不良。细胞遗传学在老年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 investigate the relationship between cytogenetics and survival in elderly patients with myelodysplastic syndrome (MDS). Methods: Chromosomal karyotype analysis was performed by R-banding technique using both direct and short-term culture methods. SPSS software was used to analyze the WHO classification of 40 elderly patients with MDS from January 1998 to December 2007, Relationship between type and survival. Results: In 40 cases, 22 cases were found with abnormal karyotype, the incidence rate was 55.0% (22/40). Five types of abnormalities: 3 cases +8; 3 cases -7; 4 cases 5q-; 8 cases 7q-; 4 cases 20q-; of which 8 cases had two or more chromosomal abnormalities. The median overall survival was 20 months. The median survival for different karyotypes was 18 months for the normal karyotype group, 48 months for the 5q-group, 12 months for the -7,7q-group, Karyotype abnormalities for 30 months. According to the WHO classification, the median survival in each group was 35 months for RA, 48 months for RARS, 17 months for RAEB1 and 215 months for RAEB1. Conclusions: 5q -, - 7,7q - is the most common chromosomal abnormalities in elderly MDS. The chromosomes with 5q - karyotype abnormalities have a good prognosis, while the chromosomes with -7,7q - karyotype abnormalities have a poor prognosis . Cytogenetics plays a crucial role in the diagnosis, prognosis and prognosis of elderly patients with MDS.