# A consistency comparison between next-generation sequencing and the FISH method for gene rearrangement detection in B-cell lymphomas

## TL;DR

This study compares next-generation sequencing and FISH for detecting gene rearrangements in B-cell lymphomas, finding overall good agreement but differences in specific genes.

## Contribution

The study provides a direct comparison of NGS and FISH for gene rearrangement detection in B-cell lymphomas, highlighting gene-specific performance differences.

## Key findings

- NGS and FISH showed high consistency in detecting B-cell lymphoma gene rearrangements (P < 0.001).
- NGS outperformed FISH in detecting BCL2 rearrangements but underperformed for MYC.
- NGS and FISH had equivalent performance for CCND1 rearrangements.

## Abstract

比较基于二代测序（NGS）的淋巴瘤多基因检测包（panel）与FISH检测B细胞淋巴瘤基因重排的一致性。

收集2019年1月到2023年5月河南省肿瘤医院对489份石蜡包埋的B细胞淋巴瘤组织进行淋巴瘤相关的413个基因靶向捕获测序后发现的融合基因，与同步采用FISH检测BCL2、BCL6、MYC和CCND1 4种断裂/融合基因的结果进行比较。两种方法对同一个样本的检测结果均为阳性或阴性为一致。同时分析NGS中融合突变丰度与FISH中阳性细胞比率的关系。

Kappa一致性分析显示NGS和FISH在检测4种B细胞淋巴瘤相关基因重排上有较高的一致性（P值均<0.001），但在阳性个体检出率上4种基因有所不同，NGS对BCL2重排的检出率高于FISH，对BCL6和MYC重排的检出率低于FISH，对CCND1重排的检出率与FISH相同。NGS中融合突变丰度与FISH中阳性细胞比率无相关性。

NGS与FISH检测B细胞淋巴瘤基因重排总体上具有较好一致性。在检测BCL2重排上，NGS优于FISH；在检测MYC重排上，NGS劣于FISH；在检测CCND1重排上二者相当。