283例骨髓增生异常综合征染色体核型分析  

Karyotype analysis of 283 cases of myelodysplastic syndrome

作　　者：潘含章[1] 陈志妹[1] 楼基余[1] 徐伟来[1] 金洁[1] 

机构地区：[1]浙江大学医学院附属第一医院血液科,浙江杭州310003

出　　处：《浙江大学学报（医学版）》2006年第2期143-146,共4页Journal of Zhejiang University(Medical Sciences)

基　　金：浙江省科技厅重点科研基金资助项目(2003C23013)

摘　　要：目的:探讨染色体核型异常在骨髓增生异常综合征(MDS)的诊断和预后评估中的作用。方法:采用直接法、短期培养法和RHG显带技术制备染色体,进行核型分析。结果:283例MDS患者中,77例检出染色体核型异常,检出率为27.21%。核型异常包括数目异常和结构异常,发生频率较高的染色体畸变依次为:+8,-20/20q-,-Y,易位型,-7/7q-,+9,-5/5q-。难治性贫血伴原始细胞增多(RAEB)和难治性贫血伴原始细胞增多转化型(RAEB-t)较难治性贫血(RA)检测到更高的异常核型比例。随访78例中有17例转化为白血病,转化率为21.79%。核型异常者及IPSS评分高危组向白血病转化的几率明显高于核型正常者及IPSS低危组(P<0.05)。结论:MDS是一组高度异质性的克隆性疾病,染色体核型分析对MDS的正确诊断、病情监测及预后评估有重要价值。Objective： To explore the implication of karyotype analysis in diagnosis and prognosis of myelodysplastic syndrome （MDS）. Methods： The chromosomes were prepared with direct method, brief culture of cells and R-banding techniques, and then the karyotypic analysis was performed. Results： Seventy-seven out of 283 patients （27.21%） had karyotypic abnormalities, including the numeral abnormalities of chromosomes and structural alterations. The most common chromosomal aberrations were ＋8, -20/20q-, -Y, translocation, -7/7q-, ＋9, -5/5q-. The rate of abnormal karotype in refractory anemia with erythroblasts （RAEB） and refractory anemia erythroblasts-transformation （RAEB-t） was much higher than in refractory anemia （RA）. Patients with abnormal karyotype or higher IPSS scores had a higher risk of transformation into acute leukemia than patients with normal karyotype or lower IPSS scores （P〈0.05）. Conclusion： MDS is a highly heterogenous disorder and karyotype analysis is helpful for its diagnosis and prognosis estimation.

关 键 词：骨髓增生异常综合征/遗传学 染色体 染色体核型 核型异常 

分 类 号：R551.3[医药卫生—血液循环系统疾病]