Dabrafenib and steroids for the treatment of Erdheim-Chester disease with extensive CNS involvement: a case report
Personalized medicine
volume 21
issue 2
pages 71-78
6/6/2024
Repository
Description
Erdheim-Chester disease (ECD) is an exceedingly rare non-Langerhans cell CD68+ CD1a- S100- histiocytic multi-organ disease. Diagnosis of ECD is often delayed due to non-specific radiographic findings and heterogeneous lesional tissue. Increasingly, the role of genomic alterations is being recognized for both diagnosis and treatment of ECD. More than half of ECD patients harbor the BRAFV600E mutation. Evaluation for this mutation be can falsely negative on immunohistochemical staining and confirmation with molecular analyses is recommended. We present a case of the 44 year-old male with BRAFV600E-positive ECD treated successfully with steroids followed by single-agent dabrafenib.
Subjects
Affiliations
- California Health Sciences University, College of Osteopathic Medicine, Clovis, CA 93611, USA.
- Department of Internal Medicine. Community Regional Medical Center, Fresno, CA 93721, USA.
- Department of Neuro-Oncology, University of California, Irvine, CA 92868-3201, USA.
Publisher
Informa UK Limited