高通量测序分析B细胞非霍奇金淋巴瘤IGH基因克隆性重排特点及临床应用价值  

Analysis of Clonal Rearrangement Characteristics and Clinical Application Value of IGH in B-cell Non-Hodgkin’s Lymphoma by Next-generation Sequencing

作　　者：马强[1] 邹东梅 郭轶先[1] 赵弘[1] 常晓丽 胡蓉华[1] 孙婉玲[1] MA Qiang;ZOU Dongmei;GUO Yixian;ZHAO Hong;CHANG Xiaoli;HU Ronghua;SUN Wanling(Department of Hematology,Xuanwu Hospital Capital Medical University,Beijing 100053,China)

机构地区：[1]首都医科大学宣武医院血液内科,北京100053

出　　处：《肿瘤防治研究》2024年第5期368-372,共5页Cancer Research on Prevention and Treatment

基　　金：北京市自然科学基金(Z200022);首都医科大学宣武医院国自然青年培育项目(QNPY2021015)。

摘　　要：目的探讨B细胞非霍奇金淋巴瘤(B-NHL)IGH基因克隆性重排特点及临床应用价值。方法收集接受NGS检测,且存在IGH基因存在克隆性重排的55例B-NHL患者的人口学资料、临床资料及IGH基因NGS检测结果,分析IGH基因克隆性重排特点、IGHV基因取用频率,以及NGS检测IGH基因重排在临床中的应用价值。结果55例患者中,以单个优势克隆为主(85.45%,47/55),少数患者可检测到2个(12.73%,7/55)和3个优势克隆(1.82%,1/55);在IGHV基因取用偏好方面,IGHV3基因在B-NHL中取用频率最高,其次为IGHV4基因;在IGHV亚型中,IGHV3-23在慢性淋巴细胞白血病/小淋巴细胞淋巴瘤(CLL/SLL)中出现频率最高,IGHV4-34在原发中枢神经系统弥漫大B细胞淋巴瘤(PCNSL-DLBCL)及弥漫大B细胞淋巴瘤非特指型(DLBCL-NOS)中出现频率最高。结论不同病理类型的B-NHL患者IGH基因克隆性重排中IGHV基因片段取用频率存在偏好,使用NGS检测IGH重排可以识别亚克隆,鉴定克隆相关性,辅助疾病诊断。Objective To investigate the clonal rearrangement characteristics and clinical application value of IGH gene in B-cell non-Hodgkin’s lymphoma(B-NHL).Methods Demographic and clinical data as well as IGH sequencing results of 55 patients with B-NHL who underwent next-generation sequencing(NGS)testing were collected,and IGH gene clonal rearrangement was detected.The characteristics of IGH gene clonal rearrangement,IGHV gene usage,and the clinical application value of NGS for IGH clonal rearrangement were analyzed.Results Among 55 patients with B-NHL and IGH clonal rearrangement,single dominant clones were mainly detected(85.45%,47/55);a few patients had two(12.73%,7/55)and three dominant clones(1.82%,1/55).In terms of preference for IGHV gene usage,IGHV3 gene had the highest frequency of access in B-NHL,followed by IGHV4.Among the IGHV subtypes,IGHV3-23 had the highest frequency in chronic lymphocytic leukemia/small lymphocytic lymphoma,and IGHV4-34 had the highest frequency in primary central nervous system diffuse large B-cell lymphoma and not otherwise specified diffuse large B-cell lymphoma.Conclusion A preference for IGHV gene usage in clonal rearr-angement of IGH genes is noted in B-NHL patients with different pathological types.Using NGS to detect IGH clonal rearrangement can identify subclones and clonal correlations,and assist in disease diagnosis.

关 键 词：IGHV 非霍奇金淋巴瘤 二代测序 克隆性重排 

分 类 号：R551.2[医药卫生—血液循环系统疾病]