中文摘要：

目的研究原发性骨髓增生异常综合征（MDS）患者染色体核型特征及其预后意义。方法对染色体核型可供分析的351例成人原发MDS患者进行回顾性分析。结果染色体核型异常者237例（67．5％）。其中仅有染色体数目异常者99例（41．7％），仅有染色体结构异常者70例（29．5％），同时有数目与结构异常者68例（28．8％）；单一异常130例（54．8％），2种异常54例（22．8％），复杂异常（≥3种）53例（22．4％）。整倍体数目改变有多倍体4例（1．7％）；非整倍体及染色体臂的异常可见于所有染色体，常见的依次有＋8、-20／20q-、-7／7q-、-5／5q-、-18、-11／11q-、＋21、-Y、-21、-10、-16、-22、＋9、del（12）（p12）。-5／5q-（5．1％）的发生率低于西方国家（8．7％～23．4％），5q-综合征的发生率极低（0．3％），＋8（19．1％）和-20／20q-（9．4％）的发生率高于西方国家（分别为1．2％～7．0％和2．0％-3．5％）。237例染色体核型异常的患者中染色体易位有31例（13．1％），其中12种染色体易位在MDS中迄今尚无文献报道。i（17）（q10）有9例（3．8％），其中6例（66．7％）为单一异常。染色体重复有7例（3．0％），主要累及1号染色体（4例）。按IPSS染色体核型分组，预后差的染色体核型检出率在RA、RARS、5q-综合征组，RCMD、RCMD—RS组，RAEB-Ⅰ组，RAEB-Ⅱ组依次升高，差异有统计学意义（χ^2=2．854，P〈0．01）。351例MDS患者中，177例获得随访资料，中位随访时间14．5（1～131）个月，81例死亡，中位生存期（MS）12（1～90）个月。按IPSS染色体核型分组，染色体核型为预后好、中、差的患者MS分别为51[95％可信区间（CI5～77]、35（95％CI—65）和13（95％CI～17）个月，Log—rank检验三组总体生存（OS）率差异有统计学意义（P=0．004）。染色体核型按正常核型（NN）、嵌合?

英文摘要：

Objective To investigate the features and prognostic significance of chromosomal karyo- type in patients with primary myelodysplastic syndromes （MDS）. Methods Results of chromosomal karyotypes of 351 adult patients with primary MDS were retrospectively analyzed. Results Two hundred and thirty-seven cases （67.5%） had karyotypic abnormalities. Of them, 99（41.7% ） were numerical, 70（29.5% ） were structural, and 68 （28.8%） were complex abnormalities. In addition, among the 237 patients with chromosomal abnormalities, 130 （54.8%） showed single abnormality, 54 （22.8%） double abnormalities and 53 （22.4%） complex abnormalities （ ≥3 two independent aberrations）. Four cases （ 1.7% ） were multiploid. Aneuploidy or of chromosomal arm anomaly were detected all of the 46 chromosomes and the aberrations in frequent order were ＋8, -20/20q-, -7/7q- -5/5q- -18, -11/11q-/, ＋21, -Y, -21,- 10, - 16, - 22, ＋ 9, del（12） （p12）. The incidence of - 5/5q - （5.1% ） was lower in our series than in western countries（8.7% - 23.4% ） and 5q - syndrome was even less （0.3%）. The incidences of ＋ 8 （ 19.1% ） and -20/20q - （9.4%） were higher in our series than in western countries（ 1.2% - 7.0%, 2.0% -3.5% ,respectively）. Chromosome translocations were detected in 31 cases（ 13.1% ）, including 12 novel translocations that have not been reported in MDS patients before. In addition, i（17） （q10） was detected in 9 cases （3.8%） of which 6 were simplex anormality. Chromosomal duplication presented in 7 cases （3.0%） with 4 cases involved chromosome 1. According to IPSS chromosomal prognositic classification, the incidence of poor-risk karyotypes was increased in the advanced WHO subtypes （P 〈 0. 001 ）. The follow-up data were available in 177 patients with a median follow-up duration of 14.5 （1 - 131 ） months. The median OS was 36 [95% confident interval （CI） 25 -46] months. According to IPSS chromosomal prognostic classification, the median OS