Luo D, Xiang C X, Ma D S, Liu G Z, Fan M T, Wang Y B, Zhao J, Yuan Y Q, Shen Q Q, Liu X Y, Liu H
Department of Pathology, Xuzhou Medical University;Department of Pathology, Affiliated Hospital of Xuzhou Medical University, Xuzhou 221000, China.
Zhonghua Bing Li Xue Za Zhi. 2024 Jun 8;53(6):563-569. doi: 10.3760/cma.j.cn112151-20231106-00339.
To analyze the clinicopathological features and differential diagnosis of large B-cell lymphoma with IRF4 rearrangement, aiming enhance its recognition and prevent misdiagnosis. 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. 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 stage Ⅳ, 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 or relapse during a follow-up period of 31-100 months. Large B-cell lymphoma with IRF4 rearrangement is a rare entity with pathological features that overlap with those of FL and DLBCL. While IRF4 rearrangement is necessary for diagnosing LBCL-IRF4, it is not specific and requires differentiation from other aggressive B-cell lymphomas with IRF4 rearrangement.
分析伴有IRF4重排的大B细胞淋巴瘤的临床病理特征及鉴别诊断，旨在提高对其的认识并防止误诊。回顾性分析了2015年至2023年在徐州医科大学附属医院诊断为IRF4重排阳性B细胞淋巴瘤的6例患者的临床病理特征、免疫表型及荧光原位杂交（FISH）结果。此外，还对文献进行了全面综述。纳入6例IRF4重排阳性的大B细胞淋巴瘤患者。患者1至5包括3例男性和2例女性，中位年龄为19岁，年龄范围为11至34岁。4例患者出现头颈部病变，另1例有乳腺结节；所有患者临床分期均为Ann Arbor Ⅰ至Ⅱ期。形态学上，2例为完全弥漫性模式，1例为纯滤泡性模式，另2例为弥漫性和滤泡性模式。肿瘤细胞以中心母细胞为主，混有一些不规则的中心细胞，中等至大细胞大小，2例可见星空样外观。免疫表型分析显示所有病例bcl-6和MUM1均阳性，Ki-67指数为70%至90%，2例CD10阳性。通过FISH分析在所有病例中均证实了IRF4重排，2例鉴定为双重IRF4/bcl-6重排，诊断为LBCL-IRF4。病例6为一名39岁女性，有扁桃体肿物，临床分期为Ann Arbor Ⅳ期，主要表现为弥漫性大B细胞淋巴瘤（DLBCL）形态，伴有20%的高级别滤泡性淋巴瘤特征。免疫组化显示CD10阴性，bcl-6/MUM1阳性，Ki-67指数约为80%。通过FISH鉴定出IRF4/bcl-2/bcl-6三重重排，诊断为伴有20%滤泡性淋巴瘤（FL）的DLBCL。所有6例患者治疗后均达到完全缓解，在31至100个月的随访期内无进展或复发。伴有IRF4重排的大B细胞淋巴瘤是一种罕见实体，其病理特征与FL和DLBCL重叠。虽然IRF4重排是诊断LBCL-IRF4所必需的，但它并不具有特异性，需要与其他伴有IRF4重排的侵袭性B细胞淋巴瘤相鉴别。
