Shen Yongmei, Xue Yongquan, Li Jianyong, Pan Jinlan, Wu Yafang, Chen Suning
First Affiliated Hospital of Soochow University, Jiangsu Institue of Hematology, Suzhou, Jiangsu, 215006 P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Apr;20(2):160-3.
To evaluate the value of a panel fluorescence in situ hybridization (FISH) in the detection of common chromosome abnormalities in myelodysplastic syndrome (MDS).
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).
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.
Panel FISH is a useful tool of molecular cytogenetics in the detection of common chromosome abnormalities in MDS.
评估一组荧光原位杂交（FISH）技术在检测骨髓增生异常综合征（MDS）常见染色体异常中的价值。
对20例MDS患者进行一组FISH分析，这些患者的核型事先未被FISH检测人员知晓，使用YAC248F5（5q31）、YAC938G5（7q32）、CEP8和YAC 912C3（20q12）探针检测MDS中常见的染色体异常（-5/5q、- /7q-、+8、20q-）。然后将结果与传统细胞遗传学（CC）的结果进行比较。
20例患者中，一组FISH检测发现13例携带常见染色体异常（8三体，5例；-5/5q-，1例；20q-，5例；5q-伴20q-，1例；复杂异常，1例）。然而，CC检查仅发现5例有常见染色体异常（20q-，4例；5q-伴20q-，1例）。此外，各有1例出现21三体、标记染色体以及包含-5、-7和标记染色体的复杂异常，其余均正常。
一组FISH是分子细胞遗传学检测MDS常见染色体异常的有用工具。
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