# Use of the ETV6/RUNX1 probe to verify the performance of the fluorescence in situ hybridization probe before clinical detection

## TL;DR

This paper validates the performance of an ETV6/RUNX1 FISH probe before clinical use to ensure accurate and reliable results.

## Contribution

A standardized validation method for FISH probes is proposed and tested using clinical samples.

## Key findings

- The ETV6/RUNX1 FISH probe showed 98.47% sensitivity and 100% specificity in validation.
- Clinical testing achieved 96.1% sensitivity, 99.6% specificity, and 99% diagnostic agreement.
- Thresholds for positive signals were established for different cell counts.

## Abstract

探讨FISH探针应用于临床检测前的规范化性能验证。

选取20名正常供者检测后剩余的骨髓样本进行间期细胞和中期分裂象FISH杂交，分析ETV6/RUNX1探针的灵敏度和特异性。采用反β函数建立该探针的阈值体系，并制定判读标准。最后以PCR检测为对照组，对286例中国医学科学院血液病医院患者骨髓样本进行平行对照研究，分析ETV6/RUNX1探针FISH检测的临床敏感性、特异性、诊断符合率，并采用Kappa检验分析两种方法诊断一致性。

ETV6/RUNX1探针灵敏度为98.47％，特异性为100％。计数50、100和200个细胞时经典阳性信号阈值分别为5.81％、2.95％和1.49％，非经典阳性信号阈值分别为13.98％、9.75％和6.26％。FISH检测临床敏感性为96.1％，特异性为99.6％，诊断符合率为99.00％，诊断一致性检验Kappa值为0.964，P值<0.001。

不具备国家医疗器械注册证的商品化FISH探针，可通过实验室自建方法验证标准进行探针的规范化性能验证和方法学性能确认，以保证为临床诊疗提供可靠、精准的参考依据。