二代测序与FISH检测B细胞淋巴瘤基因重排的一致性比较  

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

作　　者：严正 姚志华 姚书娜 赵爽 王海英 褚俊峰 徐原林 张九阳 魏冰 郑佳文 夏庆欣 吴道远 罗旭锋 周文平 刘艳艳 Yan Zheng;Yao Zhihua;Yao Shuna;Zhao Shuang;Wang Haiying;Chu Junfeng;Xu Yuanlin;ZhangJiuyang;Wei Bing;Zheng Jiawen;Xia Qingxin;Wu Daoyuan;Luo Xufeng;Zhou Wenping;Liu Yanyan(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;Department of Pathology,Affiliated Cancer Hospital of Zhengzhou University(Henan Cancer Hospital),Zhengzhou 450008,China;Department of Clinical Research Management,Affiliated Cancer Hospital of Zhengzhou University(Henan Cancer Hospital),Zhengzhou 450008,China)

机构地区：[1]郑州大学附属肿瘤医院(河南省肿瘤医院)内科,郑州450008 [2]郑州大学附属肿瘤医院(河南省肿瘤医院)分子病理科,郑州450008 [3]郑州大学附属肿瘤医院(河南省肿瘤医院)病理科,郑州450008 [4]郑州大学附属肿瘤医院(河南省肿瘤医院)临床研究管理部,郑州450008

出　　处：《中华血液学杂志》2024年第6期561-565,共5页Chinese Journal of Hematology

基　　金：国家自然科学基金(81970183);河南省中青年卫生健康科技创新领军人才培养项目(YXKC2021006)。

摘　　要：目的: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。方法: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CCND14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。结果: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。结论: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。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 generearrangement(P<0.001 for all);however, the detection rates of positive individuals differed for the fourgenes. Compared with FISH, NGS demonstrated a higher detection rate for BCL2 rearrangement, a lowerdetection 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 inFISH. Conclusions NGS and FISH detection of B- cell lymphoma gene rearrangement demonstrateoverall good consistency. NGS is superior to FISH in detecting BCL2 rearrangement, inferior in detectingMYC rearrangement, and comparable in detecting CCND1 rearrangement.

关 键 词：淋巴瘤 B细胞 原位杂交 荧光 二代测序 基因重排 一致性 

分 类 号：R733.1[医药卫生—肿瘤]