骨髓增生异常综合征各亚型染色体核型分布与预后的关系

The relevance between chromosome karyotypes and prognosis in subtypes of myelodysplastic syndromes

目的 探讨骨髓增生异常综合征（MDS）各亚型中的染色体核型分布特点及其与预后的关系。方法 回顾分析151例原发性MDS患者的染色体核型，比较各亚型中的染色体核型分布特点、国际预后积分系统（IPSS）评分、白血病转化率及死亡率等，并比较其在汉族与维吾尔族MDS患者中有无民族差异性。结果 所有患者核型异常检出率为55.0 %（83／151），其中简单异常占53.0 %（44／83），复杂异常占47.0 %（39／83）。伴多系病态造血的难治性血细胞减少症（RCMD）、原始细胞过多的难治性贫血（RAEB）-Ⅰ、RAEB-Ⅱ亚型中复杂异常的检出率明显高于难治性贫血（RA）、环形铁粒幼细胞增多的RA（RARS）亚型。核型异常涉及各条染色体，发生频率较高的染色体畸变依次为-5／5q-、-7／7q-、＋8、-20／20q-、-X／-Y、i（17q）、9p-／9q-、＋21等。IPSS评分在各亚型中差异有统计学意义（χ2＝117.802，P＜0.01）；高危组的核型异常检出率明显高于低危组和中危组（均P＜0.05）。随访151例患者白血病转化率和死亡率分别为25.2 %（38／151）和43.7 %（66／151），核型异常者白血病转化率和死亡率明显高于核型正常者（均P＜0.05）。核型异常者白血病转化中位时间和生存中位时间均短于核型正常者。汉族与维吾尔族MDS患者各亚型分布、核型异常特点及白血病转化率、死亡率等方面差异均无统计学意义（均P＞0.05）。结论 染色体核型异常在MDS不同亚型中存在差异且与预后密切相关，是影响MDS患者病情进展及预后的重要指标，对MDS的正确诊断、病情监测及预后评估有重要意义。

Objective To investigate the characteristics of chromosome karyotypes and the relationship between the prognosis and chromosome karyotypes in subtypes of myelodysplastic syndromes（MDS）. Methods The study retrospectively analyzed the characteristics of chromosome karyotype of initially diagnosed 151 MDS patients and investigated the rate and time of leukemia transformation and mortality, IPSS score,and compare the ethnic differences of Han and Uyghurs. Results Abnormal karyotype detection rate was 55.0 % （83/151）,including simple abnormalities was 53.0 % （44/83）, complex abnormalities was 47.0% （39/83）.It showed that common abnormal karyotype include -5/5q-, -7/7q-, ＋8, -20/20q-, -X/-Y, i（17q）, 9p-/9q-, ＋21. IPSS score had differences among subtypes （χ2 = 117.802, P 〈 0.01）. The detection rates of abnormal chromosome had significantly differences between each group, the abnormal karyotype detection rate in high-risk group was significantly higher than those in low risk group and moderate group（P 〈 0.05）. Follow-up 31 months（5-68 months） and found that the rates of leukemia transformation and mortality were 25.2 % （38/151） and 43.7 % （66/151）, the rates of leukemia transformation and mortality in abnormal karyotype group were significantly higher than those in normal karyotype group （P 〈 0.05）. The median survival time in abnormal karyotype was shorter than that in normal one. The distribution of Han and Uyghur patients with MDS subtypes, the characteristics of abnormal karyotype, the rates of leukemia transformation and the rates of mortality had no statistical difference（all P 〉 0.05）. Conclusion Abnormal chromosome karyotype is important index for disease progression and prognosis of MDS patients.