[IRF4重排的大B细胞淋巴瘤的诊断和鉴别诊断]。

Q3 Medicine
D Luo, C X Xiang, D S Ma, G Z Liu, M T Fan, Y B Wang, J Zhao, Y Q Yuan, Q Q Shen, X Y Liu, H Liu
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引用次数: 0

摘要

目的分析伴有IRF4重排的大B细胞淋巴瘤的临床病理特征和鉴别诊断,以提高其识别能力并防止误诊。方法回顾性分析2015年至2023年徐州医科大学附属医院确诊的6例IRF4重排阳性B细胞淋巴瘤的临床病理特征、免疫表型和荧光原位杂交(FISH)结果。此外,还对文献进行了全面回顾。结果共纳入6例IRF4重排阳性大B细胞淋巴瘤患者。1至5例患者中包括3名男性和2名女性,中位年龄为19岁,从11岁到34岁不等。其中四名患者出现头颈部病变,另一名患者出现乳房结节;所有患者均处于临床I期至II期。从形态上看,两例完全呈弥漫型,一例为纯滤泡型,另外两例为弥漫型和滤泡型。肿瘤细胞以中心母细胞为主,混有一些不规则的中心细胞,大小中等至较大,其中两例出现星空状外观。免疫分型显示,所有病例的 bcl-6 和 MUM1 均呈阳性,Ki-67 指数在 70% 至 90% 之间,其中两例 CD10 呈阳性。FISH分析证实所有病例均存在IRF4重排,其中两例发现了IRF4/bcl-6双重重排,因此诊断为LBCL-IRF4。病例6是一名39岁女性,扁桃体肿块,临床分期为Ann Arbor Ⅳ期,主要表现为弥漫大B细胞淋巴瘤(DLBCL)形态,20%具有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%。FISH鉴定出IRF4/bcl-2/bcl-6三重排,诊断为DLBCL,20%为滤泡性淋巴瘤(FL)。所有六名患者在治疗后都获得了完全缓解,在31-100个月的随访期间没有病情进展或复发。结论IRF4重排的大B细胞淋巴瘤是一种罕见病,其病理特征与FL和DLBCL重叠。虽然IRF4重排是诊断LBCL-IRF4的必要条件,但它并不具有特异性,需要与其他具有IRF4重排的侵袭性B细胞淋巴瘤相鉴别。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Diagnosis and differential diagnosis of large B-cell lymphoma with IRF4 rearrangement].

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 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. Conclusions: 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.

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中华病理学杂志
中华病理学杂志 Medicine-Medicine (all)
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