骨髓增生异常综合征患者染色体核型分析

目的 对骨髓增生异常综合征(MDS)染色体核型进行分析并结合血细胞计数、骨髓原始细胞数对其预后进行评估.方法 采用直接法、短期培养法和反带技术制备染色体,进行核型分析.结果 49例MDS患者中有22例(44.9%)检出异常克隆.核型异常包括数日异常和结构异常,数目异常以-7,+8最常见.难治性贫血伴原始细胞增多(RAEB1和RAEB2)较难治性贫血(RA)和难治性贫血伴有环状铁粒幼细胞(RARS)检测到更高的异常核型比例.MDS染色体核型异常与原始细胞比例呈正相关.结论 染色体核型分析对MDS诊断、治疗及预后评估有重要价值.

Analysis of the karyotype in patients with myelodysplastic syndrome

Objective To analyze clonal chromosomal abnormalities of patients with MDS and evaluate prognosis combining with complete blood counts and blast counts. Methods The chromosomes were prepared with direct method, brief culture of cells and R-banding techniques, and then the karyotypie analysis was performed. Results Abnormal chromosomes were detected 44.9%, including the numeral abnormalities of chromosomes and structural alterations.The most common chromosomal aberrations were -7,+8.The rate of abnormal karotype in refractory anemia with erythroblasts (RAEB1 and RAEB2) was much higher than in refractory anemia (RA) and refractory anemia with ringed sideroblasts (RAILS). Chromosomal abnormalities correlated positively with bone marrow blasts. Conclusion Karyotype analysis is very useful for the diagnosis, treatment and prognosis evaluation in MDS.