283例骨髓增生异常综合征染色体核型分析

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。

Karyotype analysis of 283 cases of myelodysplastic syndrome

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 erythroblaststransformation(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.