156例骨髓增生异常综合征的细胞遗传学及临床实验研究

Cytogenetic and clinical laboratorial study of 156 cases with myelodysplastic syndrome

目的探讨国内骨髓增生异常综合征(myelodysplastic syndrome,MDS)患者染色体核型及其演变和其分子遗传学特征。方法回顾性分析2000年至2009年诊断为MDS的156患者,按WHO标准进行诊断分型。常规细胞遗传学(conventional cytogenetics,CC)采用骨髓细胞24 h培养法和染色体R显带技术进行核型分析。部分病例联合应用荧光原位杂交技术(fluorescence in situ hybridization,FISH)研究其分子遗传学改变的情况。结果 156例患者中初诊具有克隆性染色体异常65例,占41.7%(65/156)。仅数目异常20例,占30.8%(20/65),以+8、-5、-7、+11多见;仅结构异常32例,占49.1%(32/65),以20q-、5q-、7q-多见。数目结构两种异常同时存在的13例,占20%(13/65)。联合荧光原位杂交技术可使MDS克隆性染色体异常检出率、临床诊断率大为提高。结论联合应用FISH和染色体核型分析技术检测MDS细胞可以优势互补,使结果更加准确、可靠,更适合于临床诊断、疗效判定以及微小残留病变的检测。

Objective To investigate the clinical cytogenetic features and prognosis of myelodysplastic syndrome.Methods Cytogenetics analysis of bone marrow cells was performed by 24h culture method.The karyotype was analysed by R banding technique.Fish was used to detect the frequently occurring chromosome abnormalities in some MDS cases.Results karyotype abnormalities were found in 65（41.7%） of 156 cases.The detection rate of clonal chromosomal aberrations was enhanced by combined application of FISH and karyotype analysis.Conclusion FISH combined with karyotype analysis can improve the detection rate of clonal chromosomal aberrations in MDS.FISH was more sensitive than conventional cytogenetics for detection.Fish analysis technology gives an impetus to the cytogenetics of myelodysplastic syndrome.