中文摘要：

目的研究骨髓及外周血荧光原位杂交（FISH）检测在骨髓增生异常综合征（MDS）患者细胞遗传学评估中的作用。方法前瞻性对比了112例初诊MDS患者的常规染色体核型分析和骨髓FISH检测结果，同时对56例患者骨髓及外周血FISH结果进行了比较。结果在41例检出克隆胜异常核型的病例中，有22例骨髓FISH检测与核型分析结果不完全一致，16例是探针组合不能覆盖异常染色体区段所致，涉及到探针检测位点不同仅有6例，FISH检测结果并未改变这6例患者的细胞遗传学预后分组。在71例未检出克隆性异常核型的病例中，15例（21％）通过骨髓FISH检出异常，在〈20个分裂相和≥20个分裂相的病例中FISH异常检出率分别为27％（14／51）和5％（1／20）。72％（21／29）的骨髓FISH异常病例同时检出外周血异常，4％（1／27）的骨髓FISH结果正常病例外周血检出异常。结论对于染色体核型分析少于20个正常中期分裂相的MDS患者，应使用组合探针进行骨髓标本的间期FISH检测。外周血标本FISH检测有相对高的假阴性率，但对于骨髓标本取材失败的病例也是合理的选择。

英文摘要：

Objective To exploit the role of bone marrow （BM） and peripheral blood （PB） fluores- cence in situ hybridization （FISH） in cytogenetic evaluation of myelodysplastic syndrome （MDS）. Methods The metaphase cytogenetics and BM interphase FISH were prospectively compared in 112 cases of de novo MDS. At the same time, comparison of BM and PB FISH was conducted in 56 cases. Results The differ- ences between metaphase cytogenetics and BM FISH were observed in 22 （54%） of 41 cases with clonal kary- otypic abnormalities, most of differences were caused by the limitation of FISH probe panel which could not target all of the regions with aberrations. Only 6 （27%） of 22 differences were involved in our probe regions, the FISH results did not change their cytogenetic risk categories. BM FISH testing was abnormal in 15 （21%） of 71 cases with normal karyotypes, FISH testing was abnormal in 14/51 （27%） and 1/20 （5%） cases with fewer than 20 normal metaphases or more than 20 normal metaphases. Comparison of FISH results of PB and BM samples showed abnormal PB FISH resuhs in 21 （72%）of 29 cases with abnormal BM FISH results, and in 1 （4%） of 27 cases with normal BM FISH results. Conclusion BM FISH should be used to MDS cases with fewer than 20 normal metaphases. Although PB FISH testing is limited by a relatively high false negative rate, it is a reasonable choice to cases with failure of BM aspiration.