124例急性淋巴细胞白血病患儿的遗传学分析  

Genetic analysis of 124 children with acute lymphoblastic leukemia

作　　者：张振华[1] 李敏[1] Zhang Zhen-hua;Li Min(Department of Microbiology and Immunology,School of Basic Medicine,Zhengzhou University,Zhengzhou 450001,China)

机构地区：[1]郑州大学基础医学院微生物学与免疫学系,河南郑州450001

出　　处：《四川生理科学杂志》2025年第3期525-527,693,共4页

摘　　要：目的:探讨染色体核型分析、荧光原位杂交、逆转录聚合酶链反应三种检测的组合在儿童急性淋巴细胞白血病中诊断的价值。方法:回顾性收集2021年12月至2023年12月期间于本院就诊的124例ALL患儿的临床资料。收集分析患儿的染色体核型分析、荧光原位杂交(FISH)、逆转录聚合酶链反应(RT-PCR)检测结果。结果:124例患儿中,核型分析、FISH、RT-PCR三种检测的阳性率分别为33.10%、83.10%、46.00%,三者之间有差异。患儿染色体异常呈“幂律分布”,阳性率较高的三种相关异常为超二倍体、TEL、P16。结论:三种检测相互补充及验证,是一种对ALL染色体异常比较有效的组合检测模式。核型分析与FISH在超二倍体的检测中差异较大,需进一步研究。Objective:To evaluate the diagnostic value of chromosome karyotype analysis,fluorescence in situ hybridization and reverse transcription polymerase chain reaction(RT-PCR)in children with acute lymphoblastic leukemia.Methods:The clinical data of 124 children with ALL who were admitted to our hospital from December 2021 to December 2023 were retrospectively collected.Chromosome karyotype analysis,fluorescence in situ hybridization(FISH)and RT-PCR were collected and analyzed.Results:Among the 124 children,the positive rates of karyotype analysis,FISH and RT-PCR were 33.10%,83.10%and 46.00%,respectively,with differences among them.The chromosomal abnormalities were power-law distribution,and the three related abnormalities with high positive rate were hyperdiploid,TEL and P16.Conclusion:The three tests complement and verify each other,and it is an effective combination detection mode for ALL chromosome abnormalities.There are great differences between karyotype analysis and FISH in the detection of hyperdiploid,and further research is needed.

关 键 词：急性淋巴细胞白血病 核型分析 FISH RT-PCR 超二倍体 

分 类 号：R73[医药卫生—肿瘤]