组合探针荧光原位杂交检测骨髓增生异常综合征常见染色体异常

目的：评价组合探针荧光原位杂交（fluorescence in site hybridization,FISH)在检测骨髓增生异常综合征（myelodysplastic syndrome,MDS）常见染色体异常中的价值。方法：应用YAC248F5（5q31)、YAC938G5（7q32）、CEP8、YAC912C3（20q12）4种DNA探针，对核型未知的20例MDS患者进行FISH检测－5／5q-、－7／7q-、＋8、20q－等常见染色体异常，并与常规细胞遗传学分析结果相比较。结果：20例MDS患者中，组合探针FISH检出13例有常见染色体异常（其中5例＋8，1例－5／5q-，5例20q-,1例5q-合并20q-，复杂异常1例）；而常规细胞遗传学发现5例常见染色体异常，1例＋21，复杂异常1例，标记染色体1例，正常5例。结论：组合探针FISH是筛查MDS患者常见染色体异常的有效手段。

Detection of common chromosome abnormalities in myelodysplastic syndrome with a panel fluorescence in situ hybridization

Objective To evaluate the value of a panel fluorescence in situ hybridization(FISH) in the detection of common chromosome abnormalities in myelodysplastic syndrome(MDS).Methods Twenty cases of MDS patients, whose karyotypes were unknown by the FISH examiner beforehand, were analyzed with a panel FISH using YAC248F5(5q31),YAC938G5(7q32),CEP8 and YAC 912C3(20q12) probes to detect the frequently occurring chromosome abnormalities (-5/5q,-/7q-,+8,20q-) in MDS. Then the results were compared to those of conventional cytogenetics(CC).Results Among 20 cases, 13 cases were found to carry common chromosome abnormalities by panel FISH(trisomy 8, five cases; -5/5q-, one case; 20q-, five cases; 5q- accompanying 20q-, one case; complex abnormalities, one case). However, on CC examination, only five cases were found to have common chromosomal abnormalities (20q-, four cases; 5q- accompanying 20q-, one case). In addition, trisomy 21, marker chromosome and complex abnormalities comprising -5, -7 and marker chromosomes were seen in one case each, the rest were normal. Conclusion Panel FISH is a useful tool of molecular cytogenetics in the detection of common chromosome abnormalities in MDS.