Yan Z, Yao Z H, Yao S N, Zhao S, Wang H Y, Chu J F, Xu Y L, Zhang J Y, Wei B, Zheng J W, Xia Q X, Wu D Y, Luo X F, Zhou W P, Liu Y Y
Department of Internal Medicine, Affiliated Cancer Hospital of Zhengzhou University (Henan Cancer Hospital), Zhengzhou 450008, China.
Department of Molecular Pathology, Affiliated Cancer Hospital of Zhengzhou University (Henan Cancer Hospital), Zhengzhou 450008, China.
Zhonghua Xue Ye Xue Za Zhi. 2024 Jun 14;45(6):561-565. doi: 10.3760/cma.j.cn121090-20231225-00340.
To compare the consistency of lymphoma multigene detection panels based on next-generation sequencing (NGS) with FISH detection of B-cell lymphoma gene rearrangement. 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. Kappa consistency analysis revealed high consistency between NGS and FISH in detecting the four B-cell lymphoma-related gene rearrangement (<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. 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.
比较基于下一代测序（NGS）的淋巴瘤多基因检测panel与B细胞淋巴瘤基因重排的荧光原位杂交（FISH）检测的一致性。2019年1月至2023年5月，从河南省肿瘤医院收集489例石蜡包埋的B细胞淋巴瘤组织靶向捕获测序的413个淋巴瘤相关基因检测的融合基因，并将结果与同时进行的FISH检测4个断裂/融合基因（BCL2、BCL6、MYC和CCND1）的结果进行比较。一致性定义为两种方法对同一样本产生阳性或阴性结果。还分析了NGS中融合突变丰度与FISH中细胞阳性率之间的关系。Kappa一致性分析显示，NGS与FISH在检测4种B细胞淋巴瘤相关基因重排方面具有高度一致性（所有基因均<0.001）；然而，4种基因的阳性个体检测率有所不同。与FISH相比，NGS对BCL2重排的检测率更高，对BCL6和MYC重排的检测率更低，对CCND1重排的检测率相似。未发现NGS中的融合突变丰度与FISH中细胞阳性率之间存在相关性。NGS和FISH检测B细胞淋巴瘤基因重排总体一致性良好。NGS在检测BCL2重排方面优于FISH，在检测MYC重排方面劣于FISH，在检测CCND1重排方面相当。
