首页|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

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

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  • 国家科技期刊平台
  • NETL
  • NSTL
  • 万方数据
  • 维普
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 leu-kemia,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.
Evaluation of the therapeutic value of FISH signaling type and chromosome karyotype analysis in ETV6/RUNX1-positive pediatric B-ALL
Purpose To explore the diagnostic value of dif-ferent fluorescence in situ hybridization(FISH)signal types and chromosomal karyotyping analysis in ETV6/RUNX1-positive B-cell acute lymphoblastic leukemia(B-ALL).Methods Clini-cal 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 karyoty-ping analysis,106 had a normal karyotype and 19 had an abnor-mal 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-clas-sic signal types,including ETV6 deletions.Chromosomal karyo-typing 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.

pediatric B-lymphoblastic leukemiachromosomal karyotype analysisfluorescence in situ hybridizationETV6/RUNX1 fusion gene

高雨晴、徐鸥、胡绍燕

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苏州大学附属儿童医院血液肿瘤中心,苏州 215000

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

国家中心转化研究开放课题江苏省社会发展重点项目苏州市儿童白血病重点实验室

2020ZKPB02BE2021654SZS201615

2024

10.13315/j.cnki.cjcep.2024.01.010

临床与实验病理学杂志
安徽医科大学,中华医学会安徽分会

临床与实验病理学杂志

CSTPCD北大核心
影响因子：0.776
ISSN：1001-7399
年,卷(期)：2024.40(1)
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