染色体异常核型数量与骨髓增生异常综合征进展和预后相关性研究

目的 探讨骨髓增生异常综合征（MDS）患者染色体异常核型数量与疾病进展和预后的关系。方法 对71例MDS患者进行染色体核型分析，了解MDS患者染色体异常的发生率；计数20个核分裂相，根据染色体异常核型数量，将患者分为染色体核型正常组、染色体异常核型分裂相≤5个组和染色体异常核型分裂相〉5个组，中位随访时间分别为27．0（6～83），22．5（5～90），13．5（1～48）个月，比较各组患者的白血病转化率、死亡率和生存时间。结果 71例MDS患者中44例（62．0％）患者出现染色体异常核型，其中难治性贫血（RA）、难治性血细胞减少症伴多系发育异常（RCMD）、RA伴原始细胞增多（RAEB）出现染色体异常核型频率分别为76．9％、55．8％、75．0％。各亚型染色体异常核型出现的频率差异无统计学意义；在染色体异常核型类型中复杂核型（两种以上核型异常）最多，为21例（占异常染色体组的47．7％），其次为＋8，-7，20q-，分别为8例、2例和2例，其他异常核型均为1例；染色体异常核型分裂相≤5个组的患者有28例（63．6％），〉5个组的患者有16例（36．4％）。71例MDS患者中有18例（25．4％）转化为白血病，其中染色体核型正常组的27例患者有5例（18．5％）转化为白血病；染色体异常核型分裂相≤5组的28例患者有7例（25．0％）转化为白血病，25％患者白血病转化中位时间为42个月；染色体异常核型分裂相〉5个组的16例患者有6例（37．5％）转化为白血病，25％患者白血病转化中位时间为6个月。71例MDS患者中死亡29例（40．8％）。存活42例（59．9％）。染色体核型正常组MDS患者中有8例（29．6％）死亡，染色体异常核型分裂相≤5个组患者中有12例（42．9％）死亡，染色体异常核型分裂相〉5个组患者中有9例（56．3％）死亡。3组患者中位生存时间分别为大干60个月、47个月和24个月。结论 染色体异常核型数量是影响MDS患者病情进展和预后的重要指标，提示陔指标反映MDS异常克隆负荷。

The prognostic value of quantitative chromosomal abnormality in myelodysplastic syndromes

Objective To investigate the prognostic value of quantitative chromosomal abnormality in myelodysplastic syndromes (MDS). Methods Chromosomal karyotypes in seventy-one MDS patients' were analyzed quantitatively. Based on the number of abnormal metaphase in 20 counted metaphases, the patients were divided into three groups: no abnonnal karyotypes, abnormal metaphases less than or equal to five, and that more than five. The leukemia transformation rate, death rate and survival time between these three groups were compared. Results Forty-four cases (62.0% ) had abnormal karyotypes. The incidences of abnonnal karyotypes in RA, RCMD and RAEB were 76. 9% , 55. 8% and 75. 0% , respectively, being no significant difference (P > 0. 05). Among the abnormal karyotypes, complex abnormality with two or more abnonnal karyotypes was most common and accounted for 47. 7% . The frequencies of trisomy 8, monosomy 7 and del 20q were 18. 2% , 4. 5% and 4. 5% , respectively. Other kinds of abnormal karyotypes totally accounted for 25%. There were 27 cases of group 1 , 28 of group 2 and 16 of group 3. Eighteen cases (25. 4% ) transformed to acute leukemia. The incidences of leukemia transformation in group 1 , 2 and 3 were 18. 5% , 25% and 37. 5% , and the death rates were 29. 6% , 42. 9% and 56. 3% , respectively. The median survival times were 60, 47 and 24 months respectively. Conclusion The quantitative chromosome abnormality has prognostic value in MDS.