Use of the ETV6/RUNX1 probe to verify the performance of the fluorescence in situ hybridization probe before clinical detection
10.3760/cma.j.cn121090-20230721-00015
- VernacularTitle:以ETV6/RUNX1探针为例探讨FISH性能验证方法
- Author:
Jing XIAO
1
;
Yingchun ZHENG
;
Jiawei ZHAO
;
Chenghua CUI
;
Huijun WANG
;
Qi SUN
;
Jiao MA
;
Yueshen MA
;
Zhen SONG
;
Zhijian XIAO
;
Chengwen LI
Author Information
1. 中国医学科学院血液病医院（中国医学科学院血液学研究所），血液与健康全国重点实验室，国家血液系统疾病临床医学研究中心，细胞生态海河实验室，天津 300020
- Keywords:
fluorescence in situ hybridization;
Sensitivity;
Specificity;
The diagnostic coincidence rate;
Laboratory developed test
- From:
Chinese Journal of Hematology
2024;45(1):48-53
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the standardized performance of a FISH probe before clinical detection.Methods:The probe sensitivity and specificity of ETV6/RUNX1 were analyzed via interphase and metaphase FISH in 20 discarded healthy bone marrow samples. The threshold system of the probe was established using an inverse beta distribution, and an interpretation standard was established. Finally, a parallel-controlled polymerase chain reaction detection study was conducted on 286 bone marrow samples from patients at our hospital. The clinical sensitivity, specificity, and diagnostic coincidence rate of ETV6/RUNX1 FISH detection were analyzed, and the diagnostic consistency of the two methods was analyzed by the kappa test.Results:The probe sensitivity and specificity of the ETV6/RUNX1 probe were 98.47% and 100%, respectively. When 50, 100, and 200 cells were counted, the typical positive signal pattern cutoffs were 5.81%, 2.95%, and 1.49%, respectively, and the atypical positive signal pattern cutoffs were 13.98%, 9.75%, and 6.26%, respectively. The clinical sensitivity of FISH was 96.1%, clinical specificity was 99.6%, diagnostic coincidence rate was 99.00%, diagnostic consistency test kappa value was 0.964, and P value was <0.001.Conclusion:For FISH probes without a national medical device registration certificate, standardized performance verification and methodology performance verification can be performed using laboratory developed test verification standards to ensure a reliable and accurate reference basis for clinical diagnosis and treatment.
