荧光原位杂交联合染色体分析提高急性白血病的诊断率  

Improving the diagnosis of acute leukemia by applying FISH combined with G-banding chromosome analysis

作　　者：牟琴[1] 杨静[1] 陈希[1] 陈园园[1] 张大勇[1] 陈茜[1] 邹琳[1] 

机构地区：[1]重庆医科大学附属儿童医院临床分子医学中心、儿童发育疾病研究省部共建教育部重点实验室、儿科学重庆市重点实验室、重庆市儿童发育重大疾病诊治与预防国际科技合作基地,重庆400014

出　　处：《重庆医科大学学报》2015年第4期564-569,共6页Journal of Chongqing Medical University

摘　　要：目的:探讨荧光原位杂交(fluorescence in situ hybridization,FISH)检测联合染色体分析提高急性白血病(acute leukemia,AL)的临床诊断率。方法:无菌抽取2011年1月到2012年12月410例初诊为AL患儿的骨髓标本,经细胞培养后,采用G显带方法进行染色体分析,其中57例患儿用FISH技术进行相应的基因检测。结果:在410例AL患儿中,包括明确诊断为急性髓系白血病(acute myeloblastic leukemia,AML)132例,急性淋巴细胞白血病(acute lymphoblastic leukemia,ALL)251例,未明确诊断27例,染色体异常检出率为41%(168/410)。在57例AL患儿检测的染色体和FISH中,染色体异常检出率为52.6%(30/57);而FISH检测异常率为68.4%(39/57),两种方法检测的一致性为82.5%。结论:FISH方法是检测白血病患儿染色体异常的有效技术,可提高染色体异常检出率,明显优于单纯G显带染色体分析法,联合应用FISH及染色体分析对急性白血病的诊断结果更加准确、可靠,更适合于临床诊断、疗效判定。Objective：To investigate the diagnosis of acute leukemia by applying FISH combined with G-banding chromosome analysis.Methods：Bone marrow specimens were collected from 410 children with acute leukemia（AL）from 2011 January to 2012 December.The cells were cultured and chromosome analysis was made by using G-banding method. Among them,57 AL cases were simultaneously examined by FISH with their corresponding alteration genes. Results：The chromosomal abnormal rate was 41%（168/410）in 410 AL cases. Among the 57 AL cases simultaneously examined with FISH and chromosome analysis,the chromosome abnormal rate of Gbanding method was 52.6%（30/57）. However,the abnormal rate of FISH was 68.4%（39/57）. The consistency of G-banding chromosome analysis and FISH was 82.5%. Conclusion：FISH is superior to G-banding chromosome analysis when analyzing chromosome aberration in acute leukemia. Applying FISH combined with G-banding could improve the accurate and reliable results for clinical diagnosis of acute leukemia.

关 键 词：白血病 G显带 荧光原位杂交 染色体异常 

分 类 号：R446[医药卫生—诊断学]