7号染色体断裂型弥漫大B细胞淋巴瘤的染色体核型及临床表型分析1例  

Chromosome karyotype and clinical phenotype analysis of a case of chromosome 7 rupture type diffuse large B-cell lymphoma and literature review

作　　者：李清姣 郑伟 覃艳 汪川 杨飞城 Li Qingjiao;Zheng Wei;Qin Yan;Wang Chuan;Yang Feicheng(Department of Pathology,Hunan People’s Hospital(the First Affiliated Hospital of Hunan Normal University),Changsha 410000,China;Department of Otolaryngology,Head and Neck Surgery,Central People’s Hospital of Yichang City(the First Clinical Medical College of Three Gorges University),Yichang 443000,China;Department of Pathology,the First Affiliated Hospital of Army Medical University,Chongqing 400038,China)

机构地区：[1]湖南省人民医院(湖南师范大学附属第一医院)病理科,长沙410000 [2]宜昌市中心人民医院(三峡大学第一临床医学院)耳鼻喉头颈外科,宜昌443000 [3]陆军军医大学附属第一医院病理科,重庆400038

出　　处：《国际遗传学杂志》2024年第4期291-297,共7页International Journal of Genetics

基　　金：青年博士基金项目(暨2023年国自培育项目)(BSJJ202218)。

摘　　要：目的探讨1例7号染色体断裂缺失型非霍奇金淋巴瘤,弥漫大B细胞淋巴瘤(non-Hodgkin’s lymphoma,diffuse large B-cell lymphoma,DLBCL)患者的染色体核型特征及临床表型特征。方法对1例DLBCL患者进行基因检测,分析其染色体核型特征及临床、病理学诊断资料。结果患者,男,59岁,因"发现双侧颈部肿物10月"就诊;EB病毒抗体:EB-VCA-IgG 181.00(U/mL)↑,EB-NA-IgG 178.00(U/mL)↑;肝脏见多发血管瘤。经淋巴结穿刺活检病理诊断提示患者为非霍奇金淋巴瘤,DLBCL(Ⅱ期A组IPI 0分低危组),染色体核型分析显示7号染色体断裂缺失。目前临床报道的DLBCL基因突变类型多以体细胞为主,表现为单核苷酸或多核苷酸位点的突变,染色体核型的改变较为罕见,且该患者无淋巴瘤及其他遗传病家族史,发病时患者年龄偏大,这与常见的染色体病的发病模式不同。结论DLBCL中可以见到7号染色体的断裂缺失,这一染色体畸形作为新发现的分子特征,可能扩展了淋巴瘤的分子表型的分类,其调控淋巴瘤发生发展的机制尚待进一步研究。ObjectiveTo investigate the chromosome karyotype and clinical phenotype characteristics of a case of non-Hodgkin’s lymphoma,diffuse large B-cell lymphoma(DLBCL)with chromosome 7 disruption and deletion.MethodsA case of diffuse large B-cell lymphoma was studied by genetic testing,and its chromosome karyotype characteristics and clinical and pathological diagnostic data were analyzed.ResultsThe patient,a 59-year-old male,was treated for"finding bilateral neck tumors for 10 months".EBV antibody:EB-VCA-IgG 181.00(U/mL)↑,EB-NA-IgG 178.00(U/mL)↑.The liver showed multiple hemangiomas.Pathologic diagnosis by lymph node aspiration biopsy suggested that the patient had non-Hodgkin’s lymphoma,diffuse large B-cell lymphoma(stage Ⅱ,group A,IPI score 0,low-risk group),and chromosomal karyotyping showed a breakage and deletion of chromosome 7.The types of gene mutations in diffuse large B-cell lymphoma reported in clinical practice were mostly somatic cell-based,manifested as mutations at single or polynucleotide loci,and chromosomal karyotypic alterations were rare.The patient had no family history of lymphoma or other genetic diseases and was older at the time of the onset of the disease,which was different from the pathogenesis pattern of common chromosomal disorders.ConclusionDisrupted deletion of chromosome 7 can be seen in diffuse large B-cell lymphomas,and this chromosomal aberration,as a newly discovered molecular feature,may extend the classification of molecular phenotypes of lymphomas,and its mechanism of regulating the development of lymphomas needs to be further investigated.

关 键 词：染色体畸形 非霍奇金淋巴瘤 弥漫大B细胞淋巴瘤 

分 类 号：R733.1[医药卫生—肿瘤]