Case Report: Identification of a novel STAT3 mutation in EBV-positive inflammatory follicular dendritic cell sarcoma

Frontiers in Oncology

Oncology

Peter J. B. Sabatini¹  Megan C. Ramsey²  Ali Sakhdari²  Tanya Chawla³  Geoffrey Watson⁴  Michael Ko⁵ 

[1] Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada;Division of Clinical Laboratory Genetics, Laboratory Medicine Program, University Health Network, Toronto, ON, Canada;Advanced Molecular Diagnostic Laboratory, Princess Margaret Cancer Centre, Toronto, ON, Canada;Hematopathology Department, Toronto General Hospital, Toronto, ON, Canada;Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada;Joint Department of Medical Imaging, Mount Sinai Hospital, Toronto, ON, Canada;Medical Oncology, Mount Sinai Hospital, Toronto, ON, Canada;Thoracic Surgery, Unity Health Network, St Joseph’s Hospital Site, Toronto, ON, Canada;

关键词: Epstein Barr virus (EBV);    inflammatory follicular dendritic cell sarcoma;    mutational profile;    STAT3;    chemotherapautic;   

DOI  :  10.3389/fonc.2023.1266897

 received in 2023-07-25, accepted in 2023-10-09,  发布年份 2023

来源: Frontiers

【 摘 要 】

EBV-positive inflammatory follicular dendritic cell sarcoma (EBV+ IFDCS) is an uncommon disease primarily observed in Asia. It is characterized by the development of tumors believed to originate from follicular dendritic cells (FDC). The consistent association between this condition and clonal EBV infection suggests EBV’s involvement as an etiological factor. However, diagnosing EBV+ IFDCS can be challenging due to its morphological variability and diverse immunohistochemical staining patterns. The genetic characteristics of EBV+ IFDCS remain insufficiently understood. To address this knowledge gap, we present a case study of a 47-year-old male patient diagnosed with EBV+ IFDCS. We utilized a Next-generation sequencing (NGS) platform to investigate the genetic profile of the tumor cells. We identified a single pathogenic mutation (G618R) in the STAT3 gene. This finding provides valuable insights into the genetic alterations associated with EBV+ IFDCS and potentially contributes to our understanding of the disease’s pathogenesis.

【 授权许可】

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Copyright © 2023 Ramsey, Sabatini, Watson, Chawla, Ko and Sakhdari