细胞遗传学诊断骨髓增生异常综合征临床意义  

Clinical significance of cytogenetics in myelodysplastic syndrome

作　　者：薛永权[1] 

机构地区：[1]苏州大学附属第一医院江苏省血液研究所卫生郭血栓与止血重点实验室,江苏苏州215006

出　　处：《中国实用内科杂志》2010年第5期404-407,共4页Chinese Journal of Practical Internal Medicine

基　　金：国家十一五科技支撑计划(2008BAI61B02)

摘　　要：文章分3个部分介绍了骨髓增生异常综合征(MDS)的细胞遗传学:(1)克隆性染色体异常的频率和类型。(2)细胞遗传学对于MDS的诊断、分型、预后和治疗的价值。(3)MDS细胞遗传学检测方法的评价。40%～70%的原发性MDS和95%的治疗相关性MDS(t-MDS)可检出克隆性染色体异常。其检出率的高低不但和疾病早晚阶段有关,也和方法学有关。MDS染色体畸变类型显示很大的异质性。国际预后积分系统(IPSS)现已被广泛使用。它将MDS按细胞遗传学分为3个不同的预后类型:高危、低危和中危。凡临床上疑为MDS的患者均应接受染色体检查。常规核型分析(CC)仍为最常用的方法。荧光原位杂交(FISH)是CC的重要补充。CC联合适当的FISH将允许对大多数MDS患者作出精确的细胞遗传学分析。This paper introduces cytogeuetics in myelodysp/astic syndrome （ MDS ） in three parts ： （ 1 ） the frequeney rate and types of clonal chromosomal abnormalities in MDS; （2） the value of cytogenetics in the diagnosis, classification, prognosis and treatment of MDS; （3）evaluation of the cytogenetics methods in MDS. Every patient suspected of MDS should receive chromosome examination. About 40% - 70% of primary MDS patients and 95% of therapy-related MDS（t-MDS） patients have a clonal chromosomal abnormalities. The frequency rate is related to not only the disease＇s stages, but also the methods of examination. The types of chromosomal aberrations show huge heterogeneity including various numerical and structural abnormalities, the most common of which are numerical abnormalities and deletion. International score system for evaluating prognosis in MDS has been used worldwide. It dividing the prognosis of MDS into three deferent kinds： high risk, low risk and intermediate risk. The conventional karyotypic analysis （CC） is the most useful method. Fluorencence in situ hybridizalion （FISH） is an important supplement to CC. CC in combination with FISH will be likely to make an accurate chromosomal analysis for most MDS patients.

关 键 词：骨髓增生异常综合征 细胞遗传学 荧光原位杂交核型 

分 类 号：R5[医药卫生—内科学]