A consistency comparison between next-generation sequencing and the FISH method for gene rearrangement detection in B-cell lymphomas
10.3760/cma.j.cn121090-20231225-00340
- VernacularTitle:二代测序与FISH检测B细胞淋巴瘤基因重排的一致性比较
- Author:
Zheng YAN
1
;
Zhihua YAO
;
Shuna YAO
;
Shuang ZHAO
;
Haiying WANG
;
Junfeng CHU
;
Yuanlin XU
;
Jiuyang ZHANG
;
Bing WEI
;
Jiawen ZHENG
;
Qingxin XIA
;
Daoyuan WU
;
Xufeng LUO
;
Wenping ZHOU
;
Yanyan LIU
Author Information
1. 郑州大学附属肿瘤医院（河南省肿瘤医院）内科，郑州 450008
- Keywords:
Lymphoma, B-Cell;
In situ hybridization, fluorescence;
Next generation sequencing;
Gene rearrangement;
Consistency
- From:
Chinese Journal of Hematology
2024;45(6):561-565
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To compare the consistency of lymphoma multigene detection panels based on next-generation sequencing (NGS) with FISH detection of B-cell lymphoma gene rearrangement.Methods:From January 2019 to May 2023, fusion genes detected by lymphoma-related 413 genes that targeted capture sequencing of 489 B-cell lymphoma tissues embedded in paraffin were collected from Henan Cancer Hospital, and the results were compared with simultaneous FISH detection of four break/fusion genes: BCL2, BCL6, MYC, and CCND1. Consistency was defined as both methods yielding positive or negative results for the same sample. The relationship between fusion mutation abundance in NGS and the positivity rate of cells in FISH was also analyzed.Results:Kappa consistency analysis revealed high consistency between NGS and FISH in detecting the four B-cell lymphoma-related gene rearrangement ( P<0.001 for all) ; however, the detection rates of positive individuals differed for the four genes. Compared with FISH, NGS demonstrated a higher detection rate for BCL2 rearrangement, a lower detection rate for BCL6 and MYC rearrangement, and a similar detection rate for CCND1 rearrangement. No correlation was found between fusion mutation abundance in NGS and the positivity rate of cells in FISH. Conclusions:NGS and FISH detection of B-cell lymphoma gene rearrangement demonstrate overall good consistency. NGS is superior to FISH in detecting BCL2 rearrangement, inferior in detecting MYC rearrangement, and comparable in detecting CCND1 rearrangement.
