伴MYC、BCL2、BCL6基因重排的DLBCL/HGBL临床病理学特征分析  

Clinicopathological analysis of DLBCL/HGBL with MYC,BCL2 and BCL6 gene rearrangement

作　　者：魏晶 何雅琪 薛田 柏乾明 水若鸿 陆洪芬 李小秋 于宝华 WEI Jing;HE Yaqi;XUE Tian;BAI Qianming;SHUI Ruohong;LU Hongfen;LI Xiaoqiu;YU Baohua(Department of Pathology,Fudan University Shanghai Cancer Center,Department of Oncology,Shanghai Medical College,Fudan University,Shanghai 200032,China)

机构地区：[1]复旦大学附属肿瘤医院病理科,复旦大学上海医学院肿瘤学系,上海200032

出　　处：《中国癌症杂志》2023年第9期809-817,共9页China Oncology

摘　　要：背景与目的:伴MYC、BCL2和BCL6基因重排的弥漫性大B细胞淋巴瘤/高级别B细胞淋巴瘤(diffuse large B-cell lymphoma/high-grade B-cell lymphoma,DLBCL/HGBL)又称三重打击淋巴瘤(triple-hit lymphoma,THL),其发病率低且文献报道较少,人们对其缺乏充分认识。本研究旨在探讨THL的临床病理学特征及患者预后。方法:收集复旦大学附属肿瘤医院病理科2016年6月—2021年12月诊断的THL病例10例,回顾性分析其临床特征,采用H-E染色观察其组织病理学特征,采用免疫组织化学法分析其免疫表型,采用荧光原位杂交(fluorescence in situ hybridization,FISH)法检测MYC、BCL2和BCL6基因重排,采用EB病毒编码RNA(Epstein-Barr virus-encoded RNA,EBER)原位杂交法检测判断EB病毒的感染状态。结果:10例THL患者中,男性4例,女性6例。中位年龄54岁(43~80岁)。其中2例发生在淋巴结,6例发生在结外器官,其余2例结内外均受累。临床分期Ⅲ/Ⅳ期4例(40%),Ⅰ/Ⅱ期6例(60%)。40%(4/10)的患者国际预后指数(international prognostic index,IPI)评分≥3分。50%(4/8)的患者有骨髓侵犯。2例(20%)有B症状。40%(4/10)的患者有乙肝病毒既往感染史。显微镜下观察5例呈非特指DLBCL(DLBCL,not otherwise specified,DLBCL-NOS)形态,2例兼具DLBCL与伯基特淋巴瘤特征,1例呈母细胞样形态,其余2例因组织挤压严重无法准确分类。免疫组织化学染色显示,80%为生发中心B细胞(germinal center B-cell,GCB)型,20%为非GCB(non-GCB)型;78%(7/9)为MYC/BCL2双表达,BCL6阳性率为80%,Ki-67增殖指数均≥80%。FISH检测显示,10例均同时有MYC、BCL2和BCL6基因重排。EBER原位杂交均呈阴性。除1例手术切除病灶后未化疗外,9例均接受系统治疗。10例患者的总生存期为2.0~55.5个月,中位总生存期为16.8个月。1年总生存率为68.6%,其中Ⅰ/Ⅱ期患者的1年总生存率100%,Ⅲ/Ⅳ期患者为25%。结论:THL好发于中老年人,以结外器官受累更常见,是一组形态学表�Background and purpose:Diffuse large B-cell lymphoma/high-grade B-cell lymphoma(DLBCL/HGBL)with gene rearrangement of MYC,BCL2 and BCL6,also known as triple-hit lymphoma(THL),has a low incidence and relevant literature is limited.Thus comprehensive and sufficient understanding is lacking.The purpose of this study was to explore the clinicopathological features and prognosis of this rare disease.Methods:Ten cases of THL diagnosed in Department of Pathology,Fudan University Shanghai Cancer Center from June 2016 to December 2021 were collected.Clinical features were analyzed retrospectively.Histopathological features were observed using H-E stain.Immunophenotype was analyzed by immunohistochemistry.The rearrangement of MYC,BCL2 and BCL6 genes was detected by fluorescence in situ hybridization(FISH),and Epstein-Barr virus(EBV)infection was detected by in situ hybridization using EBV-encoded RNA(EBER).Results:Of the 10 cases,4 cases were male and 6 cases were female.The median age was 54 years(43-80 years).Two cases occurred in lymph nodes,6 cases involved extranodal organs,and both lymph nodes and extranodal organs were involved in the other 2 cases.There were 4 cases(40%)with clinical stageⅢ/Ⅳdisease and 6 cases(60%)with clinical stageⅠ/Ⅱdisease.40%(4/10)patients had international prognostic index(IPI)score≥3.50%(4/8)patients had bone marrow invasion.Two(20%)cases had B symptoms.40%(4/10)patients had a history of hepatitis B virus infection.Five cases had the morphology of DLBCL,not otherwise specified(DLBCL-NOS);Two cases showed morphological features intermediate both DLBCL and Burkitt lymphoma;One case had a blastoid cytomorphology,and the other 2 cases failed to be classified accurately because of serious crushing artifacts of the tissue.Immunophenotypically,80%of the cases were of germinal center B-cell(GCB)type and 20%were of non-GCB type.MYC/BCL2 double expression accounted for 78%(7/9),BCL6 positivity was found in 80%of the total cases,and the Ki-67 proliferation index was≥80%in all cases.FISH sh

关 键 词：弥漫性大B细胞淋巴瘤/高级别B细胞淋巴瘤 三重打击淋巴瘤 基因重排 临床病理学特征 免疫表型 生存 

分 类 号：R733.4[医药卫生—肿瘤]