基于捕获法的靶向测序技术在弥漫大B细胞淋巴瘤IgH基因重排检测中的应用价值  

Application of capture-based targeted sequencing in IgH gene rearrangements in diffuse large B-cell lymphoma

作　　者：李三恩 石晨曦[1] 朱卫东[1] 王玉红 郭凌川[1] LI San-en;SHI Chen-xi;ZHU Wei-dong;WANG Yu-hong;GUO Ling-chuan(Department of Pathology,the First Affiliated Hospital of Soochow University,Suzhou 215000,China)

机构地区：[1]苏州大学附属第一医院病理科,苏州215000

出　　处：《临床与实验病理学杂志》2023年第3期317-320,共4页Chinese Journal of Clinical and Experimental Pathology

摘　　要：目的探讨基于捕获法的靶向测序技术在弥漫大B细胞淋巴瘤IgH基因克隆性重排检测中的应用价值。方法收集2020年3月~2022年1月苏州大学附属第一医院送检的DLBCL标本99例,提取患者基因组DNA,使用基于捕获法的靶向测序技术进行IgH基因克隆性重排检测。结果27.3%(27/99)患者检测到IgH基因完全IgHV-IgHD-IgHJ重排,50.5%(50/99)患者检测到IgH基因不完全IgHD-IgHJ重排,IgH基因克隆性重排联合检出率为66.7%(66/99)。27例患者检测到32种IgHV-IgHD-IgHJ重排,50例患者检测到52种IgHD-IgHJ重排,在IgHV-IgHD-IgHJ重排中,IgHV3、IgHD3和IgHJ4家族基因的取用频率最高,在IgHD-IgHJ重排中,IgHD3和IgHJ4家族基因的取用频率最高。3例患者捕获到未知IgH基因融合伴侣,其中2例为MIR4507-IgH融合,1例为IRF8-IgH融合。结论基于捕获法的靶向测序技术不仅可以检测IgH基因克隆性重排具体方式,还能发现IgH基因未知融合伴侣,对DLBCL诊断及个体化治疗策略制定具有重要意义。Purpose To investigate the value of capture-based targeted sequencing in detecting IgH gene clonal rearrangements in diffuse large B-cell lymphoma(DLBCL).Methods A total of 99 DLBCL specimens sent to the First Affiliated Hospital of Soochow University from March 2020 to January 2022 were collected.DNA was extracted and sequenced by capture-based targeted sequencing to detect IgH gene clonal rearrangements.Results Complete IgHV-IgHD-IgHJ rearrangements were detected in 27.3%(27/99)DLBCL patients and incomplete IgHD-IgHJ gene rearrangements were detected in 50.5%(50/99)DLBCL patients.The overall IgH gene clonal rearrangements were detected in 66.7%(66/99)DLBCL patients.A total of 32 IgHV-IgHD-IgHJ rearrangements were identified in 27 DLBCL patients and 52 IgHD-IgHJ rearrangements were identified in 50 DLBCL patients.IgHV3,IgHD3 and IgHJ4 families were frequently used in IgHV-IgHD-IgHJ rearrangements.IgHD3 and IgHJ4 families were frequently used in IgHD-IgHJ rearrangements.Unknown IgH gene fusion partners had been captured in 3 DLBCL patients,including two MIR4507-IgH fusions and one IRF8-IgH fusion.Conclusion Application of capture-based targeted sequencing can not only detect the specific types of IgH gene clonal rearrangements,but also find unknown fusion partners of IgH gene,which are of great significance for the diagnosis of DLBCL and the development of individualized treatment strategies.

关 键 词：淋巴瘤 弥漫大B细胞淋巴瘤 捕获法 靶向测序 IGH基因重排 

分 类 号：R733.4[医药卫生—肿瘤]