中文摘要：

目的研究不同细胞遗传学预后分组对原发性骨髓增生异常综合征（MDS）患者的预后分层意义。方法染色体核型可供分析的532例原发性MDS患者，按国际预后积分系统（IPSS）、修订的IPSS（IPSS—R）和德国-奥地利（G—A）细胞遗传学预后分组标准进行分组，随访患者，分析部分常见的单独染色体异常核型和不同预后分组标准的预后价值。结果532例患者中检出染色体核型异常者346例（65％），其中单一异常者200例（38％），2种异常者61例（11％），复杂异常者85例（16％）。最常见的克隆性异常是＋8，占所有异常核型的31％，其后依次为-7／del（7q）（13％）、del（20q）（12％）、del（5q）（9％）、-18（5％）、-21（5％）、i（17q）（5％）、-Y（4％）、-17（4％）、＋21（4％）、-13／del（13q）（4％）和-22（4％）。IPSS中预后差的核型更常见于WHO分型的难治性贫血伴有原始细胞过多（RAEB）Ⅰ和RAEBⅡ。310例患者随访资料完整，中位随访时间14．5个月。染色体核型正常患者中位生存（MS）时间为59个月，核型异常患者MS时间为26个月。IPSS细胞遗传学预后好、中、差3个亚组患者的MS时间分别为59、43和12个月（P〈0．01）。IPSS—R细胞遗传学预后好、中、差、非常差4个亚组患者的MS时间分别为59、36、15和10个月（P〈0．01）。G-A细胞遗传学预后好、中危Ⅰ、中危Ⅱ、差4个亚组患者的MS时间分别为59、44、15和11个月（P〈0．01）。常见的单独染色体核型异常中，＋8患者的MS时间为44个月，i（17q）患者为12个月，-7／del（7q）患者为14个月。结论与IPSS和G—A细胞遗传学分组比较，IPSS—R细胞遗传学分组能够起到更细致、更有效的预后分层作用，但其中一些核型异常的预后意义还需进一步验证。

英文摘要：

Objective To analyze significances of different cytogenetic categories for prognostic stratification in patients with primary myelodysplastic syndromes（MDS）. Methods Chromosomal abnormalities of 532 primary MDS patients were categorized according to cytogenetic categories of International Prognostic Scoring System（ IPSS）, Revised IPSS（ IPSS-R）, and German-Austrian （G-A）. Prognostic impacts of different cytogenetic categories and frequent isolated anomalies were investigated. Results Of 532 patients, 346 （65%） patients had clonal cytogenetic abnormalities, including 200 （ 38% ） patients had 1 abnormality, 61 （ 11% ） patients had 2 abnormalities, and 85 （ 16% ） patients had complex abnormalities. Trisomy 8 was the most frequent karyotype abnormality, occurring in 31% of the patients with clonal cytogenetic abnormalities, other frequent anomalies were -7/del （7q） （ 13 % ）, del（20q） （ 12% ）, del （5q） （9%）, - 18 （5 % ）, -21（5%）, i（17q）（5%）, -Y（4%）, -17（4%）, ＋21（4%）, -13/del（13q）（4%）, and -22 （4%）. The proportion of poor karyotypes of IPSS was higher in RAEB Ⅰ and RAEB Ⅱ among the World Health Organization classifications than in subgroups with less than 5% blasts. The follow-up data were available for 310 patients with a median follow-up duration of 14.5 months. Median survival was 59 months for patients with normal karyotypes and 26 months for those with abnormal karyotypes. According to IPSS cytogenetic categories, the median survivals of good-risk subgroup, intermediate-risk subgroup and poor-risk subgroup were 59, 43 and 12 months, respectively （P 〈 0.01 ）. For IPSS-R cytogenetic groups, the median survivals of good-risk subgroup, intermediate-risk（int-risk） subgroup, poor-risk and very poor-risk subgroup were 59, 36, 15, and 10 months, respectively （P 〈0.01）. According to G-A classification, the median survivals of good-risk subgroup, int-l-risk subgroup, int-2-risk subgroup and poor-risk subgroup