【摘要】 目的:探讨骨髓增生异常综合征(MDS)患者染色体异常克隆与WHO分型及临床转归的关系。方法:采用骨髓短期培养和G显带技术对45例MDS患者进行染色体核型分析,同时追踪其临床病情进展情况。结果:45例MDS患者中有27例(60%)检出异常克隆。在异常染色体核型中+8和高度复杂异常最多,其次为-7/7q-和复杂异常。难治性贫血(RA)异常核型检出率33.3%,难治性血细胞减少伴多系增生异常(RCMD)异常核型检出率66.6%,难治性贫血伴原始细胞增多(RAEB)异常核型检出率75%。45例患者经追踪观察,16例(35.5%)患者转化为急性白血病,其中复杂和高度复杂核型异常7例,3例+8患者,2例-7/7q-患者,4例在初诊时核型正常。国际预后评分系统(IPSS)评分中低危组和中危1组白血病转化率为0,中危2组白血病转化率为18.2%,高危组为70%,明显高于其他3组,差异有统计学意义。结论:染色体核型分析在MDS的预后评估中有重要价值。更多还原

【Abstract】 Objective:To explore the relationship between abnormal karyotype and WHO criteria and clinical progress in myelodysplastic syndrome. Method:Chromosome analysis was performed in 45 cases of MDS using the short-term culture of bone marrow cell and G-banding technique, meanwhile, their clinical progress was followed up. Result:Karyotype analysis showed that 27 cases (60%) had clonal karyotypic abnormalities. The most common chromosomal aberrations included +8 and high complex karyotype,and then -7/7q- and complex karyotype.The rate of abnormal karyotype in refactory anemia (RA) is 33.3%, While 66.6% in refractory cytopenia with multilineage dysplasia(RCMD), 75% in refractory anemia with erythroblasts(RAEB). In the following up, 16 cases (35.5%) transformed into acute leukemia,among them,7cases had high complex karyotype, 3 cases had +8, 2 cases had -7/7q-, 4 cases had normal karyotype in dignosis. The rate of transformation to leukemia in high risk patients (70%) is higher than that in low risk (0%), middle risk 1(0%) and middle risk 2(18.2%) patients.更多还原