伴IRF4基因重排的大B细胞淋巴瘤4例临床病理观察  

Clinicopathological features of large B-cell lymphoma with IRF4 rearrangement: report of four cases

作　　者：王庆煜 陈莲 WANG Qing-yu;CHEN Lian(Department of Pathology,Shanghai Children's Hospital,School of Medicine Shanghai Jiaotong University,Shanghai 200062,China;Department of Pathology,Children's Hospital of Fudan University,Shanghai200032,China)

机构地区：[1]上海市儿童医院,上海交通大学医学院附属儿童医院病理科,上海200062 [2]上海复旦大学附属儿科医院病理科,上海200032

出　　处：《诊断病理学杂志》2022年第11期1054-1057,共4页Chinese Journal of Diagnostic Pathology

摘　　要：目的 探讨伴IRF4重排的大B细胞淋巴瘤的临床病理学特点。方法 观察4例伴IRF4重排的大B细胞淋巴瘤的组织形态、分析临床及分子遗传学特点。结果 临床特点:4例患者,男性1例,女性3例,年龄3.5~14岁,平均年龄8.4岁。发病部位单侧扁桃体3例,鼻咽部1例。病理检查:肿瘤细胞不规则结节状生长,局部弥漫分布伴星空现象,胞核显著,分裂象易见,增殖活性高。免疫表型:均表达CD20、PAX5、Bcl-6和MUM1;Ki-67阳性指数均>75%。4例均显示IRF4基因断裂重排。2例患者临床为Ⅳ期,1例Ⅱ期,1例Ⅰ期。已随访4~42个月,未见肿瘤复发及进展。结论 伴IRF4重排的大B细胞淋巴瘤是一种具有独特临床病理表现的大B细胞淋巴瘤,FISH检测IRF4基因有助诊断,常规手术或化疗后,预后良好。Objective To investigate the clinical and pathological features of large B-cell lymphoma with IRF4 rearrangement. Methods The histomorphology, clinical and molecular genetic characteristics of 4 cases of large B-cell lymphoma with IRF4 rearrangement were observed. Results Among the 4 patients, 1 was male and 3 were female. The age ranged from 3.5 to 14 years, with an average age of 8.4 years. The initial lesion was located in the unilateral tonsil in 3 cases and the nasopharynx in 1 case. Pathological examination showed that tumor cells grew irregularly in a nodular pattern, with local diffuse distribution accompanied by starry sky phenomenon, prominent nuclei, visible mitotic figures, high proliferative activity. Immunophenotypically, all the tumor cells expressed CD20, PAX5, Bcl-6 and MUM1;Ki-67 positive index was >75%. All 4 cases showed IRF4 gene break rearrangement. Two patients were clinically stage Ⅳ, one was stage Ⅱ, and one was stage Ⅰ. The patients were followed up for 4 to 42 months, and no tumor recurrence or progression was found. Conclusion Large B-cell lymphoma with IRF4 rearrangement is a large B-cell lymphoma with unique clinicopathological features. FISH detection of IRF4 gene is helpful for diagnosis. After conventional surgery or chemotherapy, the prognosis is good.

关 键 词：IRF4重排 大B细胞淋巴瘤 儿童 青少年 扁桃体 鼻咽部 

分 类 号：R725.5[医药卫生—儿科]