MLL基因重排检测在儿童急性单核系白血病中的应用价值  

The value of detecting MLL gene rearrangement in children with acute monocytic leukemia

作　　者：李瑞[1] 赵鼎 王美烨 张振华[1] 李林飞 王超杰[1] Li Rui;Zhao Ding;Wang Meiye;Zhang Zhenhua;Li Linfei;Wang Chaojie(Genetics Laboratory, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital,Zhengzhou Children’s Hospital, Zhengzhou, Henan 450018,China)

机构地区：[1]郑州大学附属儿童医院,河南省儿童医院,郑州儿童医院检验科遗传室,450018

出　　处：《中华医学遗传学杂志》2019年第8期777-780,共4页Chinese Journal of Medical Genetics

基　　金：河南省医学科技攻关计划(联合共建项目)(2018020631).

摘　　要：目的探讨混合谱系白血病基因(mixed lineage leukemia,MLL)基因重排检测在儿童急性单核系白血病(acute mononuclear leukemia,AML)中的应用价值。方法应用双色探针,用间期荧光原位杂交(fluorescence in situ hybridization,FISH)技术对68例AML患儿进行MLL基因重排检测,并将其与常规G显带骨髓染色体核型分析的结果进行比较。结果在68例患儿中,共检测到28例有阳性杂交信号,MLL基因重排的检出率为41.2%。G显带核型分析共检出涉及11q23区的相互易位及断裂12例,检出率为17.6%。两种方法检出率的差异有统计学意义(P<0.05)。结论用FISH技术检测AML患儿MLL基因的重排的敏感性明显高于G显带骨髓染色体核型分析,联合应用两种技术对AML患儿进行检测可提高MLL基因重排的检出率,为临床诊断、治疗和判断预后提供重要的依据。Objective To assess the value of detecting the rearrangement of mixed lineage leukemia (MLL) gene in children with acute mononuclear leukemia (AML). Methods Dual-color fluorescence in situ hybridization (FISH) probe was used to detect MLL gene rearrangement in 68 children with AML by interphase FISH. The results were compared with that of conventional G banding chromosomal analysis. Results Among the 68 children, 28 were detected by FISH with positive hybridization signals, with a detection rate for MLL gene rearrangement being 41.2%. Twelve (17.6%) reciprocal translocations and interruption of 11q23 were detected by G banding analysis. The difference in the detection rates between the two methods was statistically significant (P < 0.05). Conclusion The sensitivity of FISH assay for MLL gene rearrangement was significantly higher than that of G banding chromosomal karyotyping. Combined use of both methods for children with AML can improve the detection rate of MLL gene rearrangements and provide crucial clues for clinical diagnosis, treatment and prognosis.

关 键 词：MLL基因 急性单核系白血病 荧光原位杂交 

分 类 号：R733[医药卫生—肿瘤]