染色体核型分析在骨髓增生异常综合征中的应用  

Application of karyotypic analysis in myelodysplastic syndrome

作　　者：郝建萍[1] 陈双[1] 哈力达·亚森[1] 江明[1] 钟笛[1] 王蕾[1] 赵芳[1] 李玲[1] 

机构地区：[1]新疆医科大学第一附属医院血液一科,乌鲁木齐830054

出　　处：《中华医学杂志》2012年第32期2277-2279,共3页National Medical Journal of China

基　　金：新疆维吾尔自治区自然科学基金（2010211A45）

摘　　要：目的探讨染色体核型分析在骨髓增生异常综合征（MDS）诊断和预后中的价值。方法2006年1月至2011年12月129例MDS患者采用骨髓细胞短期培养法和RHG显带技术制备染色体，进行核型分析，28例患者同时行荧光原位杂交（FISH）检测，随访观察88例患者，根据核型结果将患者分为低危、中危和高危组，比较各组白血病转化时间和生存时间。结果129例患者中52例存在核型异常，检出率为40．3％，核型异常包括数目和结构异常，其中复杂异常核型最多，为16例（30．8％），发生频率较高的单独核型异常为20q-和＋8，分别为10例（19．2％）和8例（15．4％），6例常规细胞遗传学检测阴性而FISH检测阳性。中位随访时间[M（Q1，Q3）]为11（3，60）个月，88例随访患者中27例（30．7％）转化为急性白血病，低危组、中危组和高危组向白血病转化率分别为27．8％（15／54）、23．5％（4／17）和47．1％（8／17），低危、中危和高危组向白血病转化的中位时间分别为〉60（14，〉60）、48（35，〉60）和7（6，12）个月；中位生存时间分别为26（15，〉60）、21（14，35）和10（6，13）个月，高危组向白血病转化时间和生存时间明显短于其他两组（均P〈0．05）。结论染色体核型分析对MDS的诊断及预后评估有重要价值。Objective To explore the applications of karyotypic analysis in the diagnosis and prognosis of myelodysplastic syndrome （MDS）. Methods Chromosomal analysis was performed with shortterm cell cultures and R-banding techniques in 129 MDS patients. And the technique of FISH was employed for clinical follow-ups in 28 MDS patients. Based on the result of abnormal karyotype, the patients were divided into three groups：low risk group ,intermediate risk and high risk group. The leukemia transformation time and survival time between these three groups were compare. Results Among them, 52 patients （40. 3% ） had numeral karyotypic abnormalities of chromosomes and structural alterations. Complex abnormal karyotype was the most common and accounted for 30. 8% （ 16 cases）. The frequencies of 20q - and ＋8 were 19.2% （10 cases） and 15.4% （8 eases） respectively. Six cases were positive by FISH, however, of whom, were negative for conventional cytogenetics. The follow-up data were available in 88 patients with a median follow up duration of 11 （ 3,60 ） months, 27 cases （ 30. 7% ） progressed to acute leukemia. The rate of leukemia transformation were 27.8% （ 15/54）, 23.5% （4/17） and 47.1% （8/17） in the low, intermediate and high risk groups respectively. The median durations of leukemic transformation were 〉60（14, 〉60）,48（35, 〉60） and 7 （6,12） months in the low, intermediate and high-risk groups and the median survival times were 26（ 15, 〉 60） ,21 （14,35） and 10（6,13） months respectively. The median durations of leukemic transformation and median survival periods in the high-risk groups were shorter than those in the low and intermediate risk groups （ all P 〈 0. 05 ）. Condusion Karyotypic analysis has important values in the diagnosis and prognosis of MDS.

关 键 词：骨髓增生异常综合征 染色体 核型异常 

分 类 号：R551.3[医药卫生—血液循环系统疾病]