伴有IRF4重排大B细胞淋巴瘤的诊断与鉴别诊断  

Diagnosis and differential diagnosis of large B-cell lymphoma with IRF4 rearrangement

作　　者：骆丹 向臣希 马东慎 刘广珍 范美婷 王玉波 赵静 袁宇晴 沈晴晴 刘昕煜 刘慧 Luo Dan;Xiang Chenxi;Ma Dongshen;Liu Guangzhen;Fan Meiting;Wang Yubo;Zhao Jing;Yuan Yuqing;Shen Qingqing;Liu Xinyu;Liu Hui(Department of Pathology,Xuzhou Medical University Department of Pathology,Affiliated Hospital of Xuzhou Medical University,Xuzhou 221000,China)

机构地区：[1]徐州医科大学病理学教研室、徐州医科大学附属医院病理科,徐州221000

出　　处：《中华病理学杂志》2024年第6期563-569,共7页Chinese Journal of Pathology

基　　金：徐州市科技计划重点研发项目(KC21207)。

摘　　要：目的分析伴有IRF4重排大B细胞淋巴瘤的临床病理特征与鉴别诊断要点,提高对其认识,避免误诊。方法回顾性分析2015—2023年徐州医科大学附属医院诊断的IRF4重排阳性的B细胞淋巴瘤的临床病理特征、免疫表型以及荧光原位杂交(FISH)检测结果,并进行文献复习。结果共收集6例IRF4重排阳性病例。例1~5患者,男性3例,女性2例。中位年龄19岁(11~34岁);4例头颈部病变,1例乳腺结节;均为临床Ann Arbor分期Ⅰ~Ⅱ期。2例呈完全弥漫性生长模式,1例呈完全滤泡样模式,2例弥漫与滤泡混合存在;5例瘤细胞体积中至大,中心母细胞样细胞为主,部分伴有不规则的中心细胞样细胞,2例伴有星空现象;免疫组织化学均表达bcl-6和MUM1,2例表达CD10,Ki-67阳性指数70%~90%;FISH检测5例均见IRF4重排,其中例1、3见IRF4/bcl-6双重排,均诊断为伴IRF4重排大B细胞淋巴瘤。例6,患者女,39岁,扁桃体肿块,临床Ann Arbor分期Ⅳ期;以弥漫性大B细胞淋巴瘤(DLBCL)为主,20%区域呈高级别滤泡性淋巴瘤形态;免疫组织化学CD10阴性,bcl-6/MUM1共阳性,Ki-67阳性指数约80%;FISH检测IRF4/bcl-2/bcl-6三者均发生重排,诊断为DLBCL伴滤泡性淋巴瘤(20%)。6例患者治疗后完全缓解,随访31~100个月,均无进展或者复发。结论伴有IRF4重排大B细胞淋巴瘤罕见,其病理特征与滤泡性淋巴瘤及DLBCL有重叠;IRF4重排虽是本病诊断的必要条件,但非特异性,需要与其他伴IRF4重排的侵袭性B细胞淋巴瘤鉴别。Objective To analyze the clinicopathological features and differential diagnosis of large B-cell lymphoma with IRF4 rearrangement,aiming enhance its recognition and prevent misdiagnosis.Methods The clinicopathological features,immunophenotype,and fluorescence in situ hybridization(FISH)results of six cases diagnosed with IRF4 rearrangement-positive B-cell lymphoma at the Affiliated Hospital of Xuzhou Medical University from 2015 to 2023 were retrospectively analyzed.Additionally,a comprehensive review of the literature was conducted.Results Six patients with IRF4 rearrangement-positive large B-cell lymphoma were included.Patients 1 to 5 included three males and two females with a median age of 19 years ranging from 11 to 34 years.Four patients presented with head and neck lesions,while the other one had a breast nodule;all were in clinical Ann Arbor stages Ⅰ to Ⅱ.Morphologically,entirely diffuse pattern was present in two cases,purely follicular pattern in one case,and diffuse and follicular patterns in other two cases.The tumor cells,predominantly centroblasts mixed with some irregular centrocytes,were of medium to large size,with a starry sky appearance observed in two cases.Immunophenotyping revealed all cases were positive for bcl-6 and MUM1,with a Ki-67 index ranging from 70% to 90%,and CD10 was positive in two cases.IRF4 rearrangement was confirmed in all cases by FISH analysis,with dual IRF4/bcl-6 rearrangements identified in two cases,leading to a diagnosis of LBCL-IRF4.Case 6,a 39-year-old female with a tonsillar mass and classified as clinical Ann Arbor stageⅣ,displayed predominantly diffuse large B-cell lymphoma(DLBCL)morphology with 20% high-grade follicular lymphoma characteristics.Immunohistochemistry showed negative CD10 and positive bcl-6/MUM1,with a Ki-67 index of approximately 80%.Triple rearrangements of IRF4/bcl-2/bcl-6 were identified by FISH,leading to a diagnosis of DLBCL with 20% follicular lymphoma(FL).All six patients achieved complete remission after treatment,with no progression

关 键 词：基因重排 淋巴瘤 B细胞 基因 BCL-2 

分 类 号：R733.1[医药卫生—肿瘤]