CASE REPORT article
Front. Oncol.
Sec. Hematologic Malignancies
Volume 15 - 2025 | doi: 10.3389/fonc.2025.1611907
Erdheim-Chester Disease: Unveiling Hidden Manifestations through Two Case Reports
Provisionally accepted
- 1Department of pathology, he First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Ji'nan, China
- 2Department of pathology, The first affiliated hospital of Shandong first medical university, Ji'Nan, China
- 3Department of Nuclear Medicine, The first affiliated hospital of Shandong first medical university, Ji'Nan, China
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We present two cases of Erdheim-Chester disease (ECD) in 66-year-old female patients, highlighting their distinct clinical manifestations and diagnostic challenges.The first patient presented with chest tightness and dyspnea, revealing pericardial effusion and hypermetabolic foci in multiple organs on imaging. Histopathological analysis indicated abundant foamy histiocytes, confirming ECD. Significant reduction in metabolic lesions following cladribine treatment. The second patient developed subcutaneous nodules post-hysterectomy, later diagnosed with mixed lobular panniculitis. Subsequent biopsies revealed similar histiocyte profiles, leading to ECD diagnosis. She responded well to an immunomodulatory regimen. Notably, wholeexome sequencing detected a MAP2K1 mutation in the second case, which lacked the BRAF V600E mutation commonly associated with ECD.. These cases underscore the importance of thorough diagnostic evaluation and highlight the variability in clinical presentation and genetic alterations of ECD, contributing to improved recognition and management strategies for this rare condition.
Keywords: Erdheim-Chester Disease, Histiocytosis, Endometrium, Pericardium, BRAF V600E, differential diagnosis
Received: 15 Apr 2025; Accepted: 14 Aug 2025.
Copyright: © 2025 Zhang, Yang, Fang, Cheng, Duan and Cui. 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: Jing Cui, Department of pathology, The first affiliated hospital of Shandong first medical university, Ji'Nan, China
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