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Erdheim-Chester Disease in Adults: 11 Cases from a Canadian Rare Diseases Program
Stephanie Quon1, Emily Leung2, Mark Trinder3
1Vancouver Fraser Medical Program, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.
Clinical Hematology International
|October 22, 2025
Summary
Erdheim-Chester disease (ECD) is a rare cancer affecting multiple organs. This study highlights its varied presentation and the importance of combining pathology, molecular data, and imaging for effective Erdheim-Chester disease management.
Area of Science:
- Oncology
- Rare Diseases
- Histiocytic Neoplasms
Background:
- Erdheim-Chester disease (ECD) is a rare, multisystemic histiocytic neoplasm.
- ECD presents diagnostic and therapeutic challenges due to its variable manifestations.
Purpose of the Study:
- To describe the clinical characteristics, molecular profile, and treatment outcomes of Erdheim-Chester disease.
- To emphasize the value of integrated diagnostic approaches for ECD management.
Main Methods:
- Retrospective multicenter case series of 11 adult patients with biopsy-proven ECD.
- Utilized PET-CT for staging and monitoring in nine cases.
- Performed molecular profiling, including BRAF V600E mutation analysis.
Main Results:
- Commonly affected sites included bone, kidney, and lungs.
- BRAF V600E mutation detected in seven patients.
- Varied treatment responses observed with diverse therapeutic agents.
Conclusions:
- ECD exhibits significant clinical heterogeneity.
- Integrated histopathology, molecular profiling, and imaging are crucial for guiding ECD management and improving patient outcomes.
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