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[Diagnosis and differential diagnosis of large B-cell lymphoma with IRF4 rearrangement].
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.
Affiliation
  • Luo D; Department of Pathology, Xuzhou Medical University;Department of Pathology, Affiliated Hospital of Xuzhou Medical University, Xuzhou 221000, China.
  • Xiang CX; Department of Pathology, Xuzhou Medical University;Department of Pathology, Affiliated Hospital of Xuzhou Medical University, Xuzhou 221000, China.
  • Ma DS; Department of Pathology, Xuzhou Medical University;Department of Pathology, Affiliated Hospital of Xuzhou Medical University, Xuzhou 221000, China.
  • Liu GZ; Department of Pathology, Xuzhou Medical University;Department of Pathology, Affiliated Hospital of Xuzhou Medical University, Xuzhou 221000, China.
  • Fan MT; Department of Pathology, Xuzhou Medical University;Department of Pathology, Affiliated Hospital of Xuzhou Medical University, Xuzhou 221000, China.
  • Wang YB; Department of Pathology, Xuzhou Medical University;Department of Pathology, Affiliated Hospital of Xuzhou Medical University, Xuzhou 221000, China.
  • Zhao J; Department of Pathology, Xuzhou Medical University;Department of Pathology, Affiliated Hospital of Xuzhou Medical University, Xuzhou 221000, China.
  • Yuan YQ; Department of Pathology, Xuzhou Medical University;Department of Pathology, Affiliated Hospital of Xuzhou Medical University, Xuzhou 221000, China.
  • Shen QQ; Department of Pathology, Xuzhou Medical University;Department of Pathology, Affiliated Hospital of Xuzhou Medical University, Xuzhou 221000, China.
  • Liu XY; Department of Pathology, Xuzhou Medical University;Department of Pathology, Affiliated Hospital of Xuzhou Medical University, Xuzhou 221000, China.
  • 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 ; 53(6): 563-569, 2024 Jun 08.
Article in Zh | MEDLINE | ID: mdl-38825901
ABSTRACT

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.
Subject(s)

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Gene Rearrangement / Lymphoma, Large B-Cell, Diffuse / In Situ Hybridization, Fluorescence / Interferon Regulatory Factors / Proto-Oncogene Proteins c-bcl-6 Limits: Adolescent / Adult / Child / Female / Humans / Male Language: Zh Journal: Zhonghua Bing Li Xue Za Zhi Year: 2024 Document type: Article Affiliation country: China Country of publication: China

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Gene Rearrangement / Lymphoma, Large B-Cell, Diffuse / In Situ Hybridization, Fluorescence / Interferon Regulatory Factors / Proto-Oncogene Proteins c-bcl-6 Limits: Adolescent / Adult / Child / Female / Humans / Male Language: Zh Journal: Zhonghua Bing Li Xue Za Zhi Year: 2024 Document type: Article Affiliation country: China Country of publication: China