荧光原位杂交技术检测骨髓增生异常综合征染色体异常的临床意义  

Chromosomal Abnormalities Detected by Fluorescence in Situ Hybridization and Their Clinical Significance in Patients with Myelodysplastic Syndrome

作　　者：蔡莹[1] 林帅[1] 史策[1] 张笑茜[1] 张迎媚[1] 赵辉[1] 周晋[1] 

机构地区：[1]哈尔滨医科大学附属第一医院中心实验室,黑龙江哈尔滨150001

出　　处：《现代生物医学进展》2014年第26期5096-5099,共4页Progress in Modern Biomedicine

基　　金：黑龙江省教育厅科学技术研究项目(12521264)

摘　　要：目的:探讨荧光原位杂交(FISH)技术检测骨髓增生异常综合征(MDS)染色体异常的敏感性,特异性及临床意义。方法:采用细胞遗传学分析(CCA)和组合探针CSF1R/D5S23,D5S721(5q33),EGR1/D5S23,D5S721(5q31),D7S486/CSP7(7q31),D7S522/CSP7(7q31),D20S108/CSP8(20q12/CSP8)检测45例MDS患者骨髓细胞的染色体异常,并比较检测结果。结果:两种方法共检出染色体异常26例(58%),染色体数目异常9例,占34.6%;染色体结构异常13例,占50%;复杂核型4例。CCA检出+8和20q-各3例,7q-2例;FISH检出7号染色体异常8例占17.8%(8/45),两组间比较差异有统计学意义(P=0.0441713)。FISH检出+8和20q-各5例,5q-异常4例。7号染色体异常和复杂核型组与核型正常组比较转白率高。结论:组合探针检出MDS中5q-,-7/7q-,+8,20q-核型异常高于CCA,CCA结合FISH技术能提高MDS染色体异常的检出率,对于疾病诊断,判断预后具有重要价值。Objective： To investigate the sensitivity, specificity and clinical significance of the chromosomal abnormalities in patients with myelodysplastic syndrome （MDS）. Methods： To test chromosomal abnormalities in the bone marrow cells of 45 patients with MDS by the CSF1R/D5S23, D5S721 （5q33）, EGR1/D5S23, D5S721 （5q31）, D7S486/CSP7 （7q31）, D7S522/CSP7 （7q31）, D20S108/CSP8 （20q12/CSP8） combinational probes and to compare the results with the conventional cytogenetic analysis （CCA）. Results： Chromosomal anomalies were detected in 26 of 45 patients （58%） by either FISH or CCA. Among the 26 patients, 9 were numerical chromosomal anomalies （34.6 %）, 13 were structural rearrangements （50 %）, and 4 were complex chromosomal abnormalities. 3 trisomy 8 （＋8）, 3 who had loss of long arm of chromosome 21 （21q-）, and 2 cases （2/45, 4.4%） associated without long arm of chromosome 7（7q-） were detected by CCA. Among the 8 patients with abnormalities of chromosome, 7（17.8%） were detected by FISH. There was statistically significant difference between the two groups（P=0.0441713）. 5 patients were ＋8, 5 were 20q-, and 4 were 5q- that were detected by FISH. The probability of-7/7q- or complex chromosomal abnormalities transformed into leukemia was higher. Conclusions： Detection rates of MDS 5q-, -7/7q-,＋8, 20q- abnormal karyotypes by combinational probes were higher than those of the results detected by the CCA. CCA combined with FISH technology could improve the detection rate which is helpful for the diagnosis, the treatment and the prognosis.

关 键 词：骨髓增生异常综合征 荧光原位杂交 染色体异常 预后 

分 类 号：R551.3[医药卫生—血液循环系统疾病] R446[医药卫生—内科学]