Chinese Journal of Evidence-Based Pediatrics ›› 2022, Vol. 17 ›› Issue (1): 70-74.

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6 cases of large B-cell lymphoma with IRF4 gene rearrangement in children:A case series report and literature review

ZHANG Nan1, DUAN Yanlong1, ZHOU Chunju2, JIN Ling1, YANG Jing1, HUANG Shuang1,ZHANG  Meng1,ZHANG Yonghong1   

  1. National Center for Children's Health ,Beijing Children's Hospital ,Capital Medical University, Beijing  100045,China; 1 Medical Oncology Department, Pediatric Oncology Center, Key Laboratory of Pediatric Hematology Oncology, Key Laboratory of Major Diseases in Children, Ministry of Education; 2 Department of Pathology
  • Received:2021-12-09 Revised:2022-01-24 Online:2022-02-25 Published:2022-02-25
  • Contact: DUAN Yanlong, email: duanyanlong@hotmail.com

Abstract: Background: Large Bcell lymphoma in children with interferon regulatory factor 4(IRF4)gene rearrangement is defined as a unique subtype in the 2017 WTO lymphoma classification. Since it is clinically rare with special clinical features, it is necessary to distinguish it from other large Bcell lymphomas. Objective: To investigate the clinical manifestations, pathological features, treatment and prognosis of large Bcell lymphoma with IRF4 gene rearrangement in children. Design: Case series report. Methods: The clinical data of children with large Bcell lymphoma with IRF4 gene rearrangement diagnosed and treated in Beijing Children's Hospital affiliated to Capital Medical University from May 2018 to October 2021 were collected retrospectively. The clinical characteristics were summarized, and PubMed, Wanfang and CNKI were searched for literature review. Main outcome measures: Complete response rate of large Bcell lymphoma in children with IRF4 gene rearrangement. Results: Six cases were included in the analysis, accounting for 2.7% of the invasive mature Bcell lymphoma treated in our hospital in the same period. There were 5 males (83.3%) and 1 female. The age of onset was 7 (4 13) years old. The involved sites were the neck and head in 4 cases, the intestine in 1 case and both of the head and neck and intestine in 1 case. No metastasis was found from the onset to followup. Four cases were in stageⅡ and 2 cases were in stage Ⅲ. Among the 62 cases including 56 from literature review, 61.2% were male, the age of onset was 11.15 (3,18) years old, the main site of tumor was 79% in the head and neck, and 21% in the intestine and groin. Most of them were isolated lesions, and no metastasis was found from the onset to followup. Clinical stage ⅠⅡ accounted for 79%. Under light microscope, 2 of 6 cases showed complete nodular follicular structure featured by nodules of different sizes, lack of "starry sky phenomenon" formed by mantle area and phagocytic nuclear fragments and 4 cases showed completely diffuse like structure with medium or large tumor cells, scattered nuclear chromatin and small basophilic nucleoli. Immunohistochemistry showed the expression of CD20 and PAX5, the strong expression of BCL6 and MUM1, and the positive index of 90% to 95% for Ki67. Three cases were positive for CD10 and BCL2, six cases were positive for IRF4 rearrangement by fluorescence in situ hybridization (FISH), and BCL6, BCL2 and CMYC gene rearrangements were not detected. Sixtytwo cases showed complete diffuse like structure (43.5%), complete nodular follicular like structure (37.1%) and mixed like structure (19.4%) and 88.7% could detect rearrangement with IRF4 . Conclusion: Large Bcell lymphoma with with IRF4 rearrangement is clinically rare. The tumor is mainly involved in the head and neck. The clinical stage is mainly early lesions, which are more isolated and inert, slow progress, weak invasiveness and good prognosis. The pathological morphology showed complete diffuse like, follicular like and mixed like structures. Immunohistochemistry showed the expression of CD20 and PAX5, the strong expression of BCL6 and MUM1, and the high positive index of Ki67. IRF4 rearrangement could be detected by FISH combined with secondgeneration gene sequencing.

Key words: large B-cell lymphoma with IRF4 gene rearrangement, children, treatment, prognosis