CASE REPORT article
Front. Immunol.
Sec. Autoimmune and Autoinflammatory Disorders : Autoimmune Disorders
Volume 16 - 2025 | doi: 10.3389/fimmu.2025.1611452
This article is part of the Research TopicInnovative Ways of Targeting the RTK/RAS/RAF PathwayView all articles
The Rare Pancreatic Involvement in Erdheim-Chester Disease
Provisionally accepted
- 1Department of Rheumatology and Immunology, Peking University International Hospital, Beijing, China
- 2Department of Pathology, Peking University International Hospital, Beijing, China
- 3Department of nuclear medicine, Peking University International Hospital, Beijing, China
Select one of your emails
You have multiple emails registered with Frontiers:
Notify me on publication
Please enter your email address:
If you already have an account, please login
You don't have a Frontiers account ? You can register here
Background: Erdheim-Chester disease (ECD) is an exceedingly rare non-Langerhans histiocytosis. While often affecting the skeleton, cardiovascular system, and kidneys, pancreatic involvement remains uncommon and can mimic more prevalent conditions such as autoimmune or chronic pancreatitis.Presentation: A 58-year-old female presented with a two-year history of bilateral lower limb edema and a year-long course of recurrent abdominal pain. Imaging suggested necrotizing pancreatitis and retroperitoneal infiltration, yet serum IgG4 levels were normal. A CT-guided biopsy of the pancreas and retroperitoneum revealed diffuse proliferation of foamy histiocytes (CD68⁺, CD163⁺, CD1α⁻) carrying the BRAF V600E mutation, confirming ECD. Supportive therapy and corticosteroids temporarily relieved symptoms, but targeted treatment was delayed due to the COVID-19 pandemic. Subsequent follow-up revealed significant clinical improvement following targeted therapy. Discussion: ECD can present with non-specific clinical features, leading to frequent misdiagnoses. Involvement of the pancreas, as demonstrated here, is particularly rare. The discovery of the BRAF V600E mutation underscores the importance of molecular testing for both diagnostic confirmation and therapeutic stratification. The immunopathogenesis of ECD involves activated macrophages and aberrant MAPK signaling, which drive chronic inflammation and tissue fibrosis. Conclusion: This case highlights the diagnostic challenges of pancreatic ECD and underscores the critical value of an integrated approach-including imaging, immunohistochemistry, and molecular analysis-in achieving timely diagnosis. Early recognition and targeted therapy may significantly improve outcomes for patients with BRAF-mutant ECD.
Keywords: Erdheim-Chester Disease, Pancreatic involvement, BRAF V600E, Non-Langerhans histiocytosis, Foamy histiocytes, MAPK pathway
Received: 20 May 2025; Accepted: 26 Jun 2025.
Copyright: © 2025 Li, Zhang, Zou, Zhang, Song, Li and Li. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Sheng-Guang Li, Department of Rheumatology and Immunology, Peking University International Hospital, Beijing, China
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.