Evaluation of the therapeutic value of FISH signaling type and chromosome karyotype analysis in ETV6/RUNX1-positive pediatric B-ALL
10.13315/j.cnki.cjcep.2024.01.010
- VernacularTitle: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
- Author:
Yuqing GAO
1
;
Ou XU
;
Shaoyan HU
Author Information
1. 苏州大学附属儿童医院血液肿瘤中心,苏州 215000
- Keywords:
pediatric B-lymphoblastic leukemia;
chromosomal karyotype analysis;
fluorescence in situ hybridization;
ETV6/RUNX1 fusion gene
- From:
Chinese Journal of Clinical and Experimental Pathology
2024;40(1):40-43
- CountryChina
- Language:Chinese
-
Abstract:
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.
