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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 chromosomal karyotype and its evolution and molecular genetics in patients with myelodysplastic syndrome (MDS) in China. Methods A retrospective analysis of 156 patients with MDS diagnosed between 2000 and 2009 was performed according to WHO criteria. Conventional cytogenetics (CC) using bone marrow cells 24 h culture and chromosome R banding karyotype analysis. In some cases, fluorescence in situ hybridization (FISH) was used to study the molecular genetic changes. Results Among the 156 patients newly diagnosed with clonal chromosomal abnormalities in 65 cases, accounting for 41.7% (65/156). Only the number of abnormalities in 20 cases, accounting for 30.8% (20/65), +8, -5, -7, +11 more common; only structural abnormalities in 32 cases, accounting for 49.1% (32/65), 20q-, 5q -, 7q- more common. The number of structural abnormalities coexist in 13 cases, accounting for 20% (13/65). Joint fluorescence in situ hybridization can make MDS clonal chromosome abnormality detection rate, clinical diagnosis rate greatly improved. Conclusion The combined application of FISH and chromosome karyotype analysis to detect MDS cells can complement each other’s advantages and make the results more accurate and reliable. It is more suitable for clinical diagnosis, curative effect determination and detection of minimal residual disease.