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Genomic and Transcriptomic Landscape of Epstein-Barr Virus-Positive Inflammatory Follicular Dendritic Cell Sarcoma: A Multicenter Study.

Yan Li·Ze-Lin Weng·Han-Xiao Fei·Hai-Feng Li·Yi-Na Liu·Le-Le Zhang·Qiong Zhang·Xin Weng·Yuan-Yuan Wang·Wen-Yong Huang·Zhi-Xing Cao·Kai-Yan Yang·Xi-Liang Chen·Jie Gao·Wen-Sheng Yang·Fang Liu·Juan-Juan Yong·Jing-Ping Yun·Hua Zhang·Yu-Hua Huang
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Abstract

Epstein-Barr virus (EBV)-positive inflammatory follicular dendritic cell sarcoma (EBV+ IFDCS) is a rare indolent malignant neoplasm, which occurs almost exclusively in the liver or spleen and may arise from a common EBV-infected mesenchymal cell that differentiates along the follicular or fibroblastic dendritic cell pathway. Despite its rarity, it presents a pressing need for an improved understanding of its genetic underpinnings and potential treatment strategies for recurrent or disseminated cases. To address this, we conducted comprehensive whole-exome sequencing and transcriptome sequencing (mRNA-seq) analyses on 31 and 6 cases of EBV+ IFDCS, respectively, collected from multiple centers in China. We also compared the genetic features of EBV+ IFDCS with those of other EBV-associated malignancies. Our analyses revealed a relatively high somatic mutation rate and widespread copy number variations affecting the major histocompatibility complex-I/II in EBV+ IFDCS. Integrated mutational profiling identified key signaling pathways involved in epigenetic regulation, NF-κB signaling, RTK/RAS/PI(3)K, and the Hippo pathway. Furthermore, we identified several frequently altered genes that could serve as potential therapeutic targets in EBV+ IFDCS. Transcriptomic analysis unveiled significant upregulation of pathways related to virus infection, immune responses, and multiple immune checkpoint genes in EBV+ IFDCS. Comparative analysis demonstrated clear genetic distinctions between EBV+ IFDCS and other EBV-associated tumors. In conclusion, our study provides comprehensive insights into the unique genomic and transcriptomic landscape of EBV+ IFDCS. We have identified multiple genetic alterations that likely contribute to the development and progression of this malignancy. Our results suggest that targeted therapy and immune checkpoint inhibitors may hold promise as potential therapeutic approaches for patients with recurrent or disseminated EBV+ IFDCS.

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HumansDendritic Cell Sarcoma, FollicularEpstein-Barr Virus InfectionsMaleFemaleMiddle AgedTranscriptomeAdultHerpesvirus 4, HumanAgedExome SequencingBiomarkers, TumorMutationGene Expression ProfilingEpstein-Barr virus-positive inflammatory follicular dendritic cell sarcomagenomicsimmune checkpoint therapytargeted therapytranscriptomicstreatment strategyJournal ArticleMulticenter Study

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Yan Li, Ze-Lin Weng, Han-Xiao Fei, Hai-Feng Li, Yi-Na Liu, Le-Le Zhang, Qiong Zhang, Xin Weng, Yuan-Yuan Wang, Wen-Yong Huang, Zhi-Xing Cao, Kai-Yan Yang, Xi-Liang Chen, Jie Gao, Wen-Sheng Yang, Fang Liu, Juan-Juan Yong, Jing-Ping Yun, Hua Zhang, Yu-Hua Huang. 2025-08-08. Genomic and Transcriptomic Landscape of Epstein-Barr Virus-Positive Inflammatory Follicular Dendritic Cell Sarcoma: A Multicenter Study.. https://doi.org/10.1016/j.modpat.2025.100864

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