FISH信号类型和染色体核型分析在ETV6/RUNX1阳性B-ALL患儿中的诊疗价值评估  

Evaluation of the therapeutic value of FISH signaling type and chromosome karyotype analysis in ETV6/RUNX1-positive pediatric B-ALL

作　　者：高雨晴 徐鸥 胡绍燕[1] GAO Yuqing;XU Ou;HU Shaoyan(Hematology and Oncology Center,Children’s Hospital of Soochow University,Suzhou 215000,China)

机构地区：[1]苏州大学附属儿童医院血液肿瘤中心,苏州215000

出　　处：《临床与实验病理学杂志》2024年第1期40-43,共4页Chinese Journal of Clinical and Experimental Pathology

基　　金：国家中心转化研究开放课题(2020ZKPB02);江苏省社会发展重点项目(BE2021654);苏州市儿童白血病重点实验室(SZS201615)。

摘　　要：目的探讨FISH信号类型和染色体核型分析对ETV6/RUNX1阳性B系急性淋巴细胞白血病(B-acute lymphoblastic leukemia,B-ALL)的诊疗价值。方法收集164例ETV6-RUNX1融合阳性B-ALL患者的临床病理资料,对其染色体核型和FISH的结果进行回顾性分析。结果164例患者中FISH检出163例阳性,其中61例为经典阳性信号2F1R1G;102例为非经典信号,其中2F1G和1F1R2G信号类型最多,提示ETV6缺失;164例患者中有8例患儿未做染色体核型分析,31例患儿因无核分裂象未能进行染色体核型分析,可以进行核型分析的125例患儿中,正常核型106例,异常核型19例,且均未检出t(12;21)易位。结论FISH技术检测ETV6/RUNX1融合基因敏感度高,且多表现为包括ETV6缺失在内的非经典信号类型;染色体核型分析有助于发现复杂核型和超倍体,但不利于t(12;21)融合的检出。因此FISH信号类型和染色体核型分析在ETV6/RUNX1阳性B-ALL中具有不可或缺的作用。Purpose To explore the diagnostic value of different fluorescence in situ hybridization(FISH)signal types and chromosomal karyotyping analysis in ETV6/RUNX1-positive B-cell acute lymphoblastic leukemia(B-ALL).Methods Clinical data of 164 newly diagnosed ETV6/RUNX1-positive B-ALL patients were collected for retrospective analysis of chromosomal karyotyping and FISH.Results Among the 164 patients,163 positive cases were detected by FISH,among them the classic 2F1R1G signal type was found in 61 cases,and 102 cases showed non-classic signal types,with 2F1G and 1F1R2G signal types being the most common,indicating ETV6 deletion.Among them,the classic 2F1R1G signal type was found in 61 cases,and 102 cases showed non-classic signal types,with 2F1G and 1F1R2G signal types being the most common,indicating ETV6 deletion.Among the 125 children who could undergo karyotyping analysis,106 had a normal karyotype and 19 had an abnormal karyotype,with no detection of t(12;21)translocation.Conclusion FISH technology has high sensitivity in detecting ETV6/RUNX1 fusion genes,and it often manifests as non-classic signal types,including ETV6 deletions.Chromosomal karyotyping analysis helps to identify complex karyotypes and polyploidy but is not conducive to detecting t(12;21)fusion.Therefore,both FISH signal types and karyotyping analysis play indispensable roles in ETV6/RUNX1-positive B-ALL.

关 键 词：儿童B淋巴细胞白血病 染色体核型分析 荧光原位杂交 ETV6/RUNX1融合基因 

分 类 号：R733.71[医药卫生—肿瘤]