骨髓增生异常综合征99例临床分析

Myelodysplastic syndrome:a clinical study of 99 cases.

目的探讨骨髓增生异常综合征（MDS）患者WHO亚型分布、细胞遗传学特点及其与MDS诊断分型、疾病进展和预后的关系。方法回顾性分析2001年1月至2007年12月安徽医科大学附属安徽省立医院血液科收治的99例成人原发MDS患者的染色体核型、WHO分型及预后情况，随访观察并进行相关性研究。结果99例MDS患者难治性贫血（RA）型26例（26．26％）；难治性贫血伴环形铁幼粒细胞增多（RAS）型6例（6．06％）；难治性贫血伴多系发育异常（RCMD）型23例（23．23％）；难治性贫血伴原始细胞增多（RAEB）型44例（44．44％）。按IPSS预后分组，中危Ⅱ和高危组的染色体核型异常检出率明显高于低危和中危Ⅰ组（X^2=17．88，P〈0．01）；中危Ⅱ和高危组患者进展为急性白血病的发生率明显高于低危和中危Ⅰ组（X。=40．22，P〈0．01）。按IPSS染色体核型分组，预后好、中、差的患者中位存活期分别为45（95％CI：39～51）、37（95％CI：25～49）和23（95％CI：13～31）个月，Log-rank检验三组总体生存（os）率差异有统计学意义（P=0．010）。结论中国有别于西方国家MDS患者的WHO亚型分布，染色体核型分析是MDS诊断分型及预后评估的重要指标。

Objective To study the WHO classification and cytogenetic characteristics in patients with myelodysplastic syndrome （MDS）, and to explore their relationship with diagnosis, progression and prognosis of MDS. Methods Ninty-nine adult patients with primary MDS, admitted to Anhui Provincial Hospital of Anhui Medical University between January 2001 and December 2007, were enrolled in the study. We retrospectively analyzed their chromosomal karyotypes, WHO classifications and prognosis. A follow-up study and correlation analysis were per-formed. Results Among the 99 MDS cases,26（26. 26% ） were diagnosed with RA,6（6. 06% ） with RAS,23 （23.23 % ） RCMD and 44 （44.44%） RAEB. According to IPSS chromosomal prognostic classification, the detection rate of abnormal karyotype was significantly higher in int- Ⅱ/high risk groups than that in low/int-Ⅰ risk groups （X^2 = 17.88, P 〈 0. 01 ） ;the incidence of acute leukemia （AL） was significantly higher in int- Ⅱ/high risk groups than that in low/int-Ⅰrisk groups （ X^2 = 40. 22, P 〈 0. 01 ）. According to IPSS chromosomal karyotype classification,the median survival time of patients with good,moderate and poor prognosis were 45 （95% CI：39 - 51 ） , 37 （ 95 % C1：25 - 49 ） and 23 （ 95 % CI ： 13 - 31 ） months respectively, with a statistical significance found in overall survival （OS） rates of these three groups （P = 0. 010）. Conclusion The features of WHO classification in Chinese patients with primary MDS are different from those in Western countries, and the chromosome karyotype may be of great importance for diagnostic classification and prognostic evaluation of MDS.