FISH探针组合检测骨髓增生异常综合征常见染色体异常  

Cytogenetic abnormalities detected by FISH panel in patients with myelodysplastic syndrome

作　　者：应逸[1] 杨志刚[2] 陈晓燕[1] 杜庆华[1] 王汉平[1] 谢健晋[1] 陈小卫[1] 

机构地区：[1]广州市第一人民医院血液内科,广东广州5101802 [2]广东医学院附属医院血液内科,广东广州5101802

出　　处：《中国热带医学》2014年第1期79-82,共4页China Tropical Medicine

基　　金：2013年广州市科技攻关项目(No.201300000195);2012年东莞市医疗卫生科技计划项目(No.2012105102031)

摘　　要：目的探讨成套荧光原位杂交(FISH)探针组合在检测骨髓增生异常综合征(MDS)患者常见染色体异常中的价值。方法对2011年5月至2013年9月在广州市第一人民医院血液内科住院治疗的42例初诊MDS患者同时应用EGR1/D5S23,D5S721(5q31)、CSF1R/D5S23,D5S721(5q33)、D7S486/CSP7(7q31)、D7S522/CSP7(7q31),D20S108/CSP8(20q12/CSP8)以及X/Y共6组探针进行间期FISH检测,分析MDS患者中染色体异常的发生率,并与常规染色体核型分析(CC)结果进行比较。结果在42例MDS患者中有23例发现有染色体异常(54.76%),其中21例为单条染色体异常,1例为2条染色体异常,1例为3条染色体的复杂异常。按染色体异常发生率的高低依次为5q-9例(21.43%),+8 8例(19.05%),7q-4例(9.52%),20q-3例(7.14%),-7 2例(4.76%),未检出-5和-Y。同时进行的核型分析发现染色体异常的阳性率为45.45%(15/33例),两者间差异无统计学意义(χ2=0.641,P=0.424)。在18例正常核型的患者中,间期FISH组合分别检出1例+8和1例5q-。结论成套FISH探针技术能够快速、敏感地检测MDS患者的染色体异常,可以成为常规染色体核型分析的有益补充。Objective To evaluate the significance of fluorescence in situ hybridization（ FISH） panel in detecting cytogenetic abnormalities in patients with myelodysplastc syndrome（MDS）. Methods A panel of FISH probes, including EGR1/D5S23,D5S721（5q31）, CSF1R/D5S23,D5S721（5q33）、D7S486/CSP7（7q31）、D7S522/CSP7（7q31）,D20S108/CSP8（20q12/CSP8）and X/Y were used to detect de novo MDS in 42 case. The results were compared with those of conventional cytogenetics（CC）. Results Cytogenetic abnormalities were found in 23 patients by FISH panel（54.76%）. The most frequent abnormality was del（5q）（21.43%）, followed by ＋88（19.05%）, del（7q）（9.52%）,del（20q）（7.14%） and-7（4.76%）.There were no-5and –Y abnormalities detected in these patients. Simultaneously karyotype detection revealed abnormalities in 15 of 33patients by CC（45.45%）.There was no significant difference between the two methods（χ2=0.641, P =0.424）.One, ＋8 and a 5qabnormality cases were detected by FISH panel from 18 patients with normal karyotype. Conclusion FISH with probes panel is a rapid and sensitive technique for detection of cytogenetic abnormalities, especially in patients with normal karyotype.It can be useful complementary for CC.

关 键 词：骨髓增生异常综合征 荧光原位杂交 染色体 

分 类 号：R551.3[医药卫生—血液循环系统疾病]