About Erdheim-Chester Disease
Erdheim-Chester Disease is a rare clonal histiocytic neoplasm characterized by infiltration of foamy CD68+/CD1a- histiocytes into virtually any tissue, most characteristically causing bilateral symmetrical long bone osteosclerosis, periaortic and perirenal soft tissue infiltration (hairy kidney), and retroperitoneal fibrosis. Activating MAPK pathway mutations, most commonly BRAF V600E, are present in approximately 50-60% of cases, enabling targeted therapy with vemurafenib and other BRAF/MEK inhibitors. CNS and cardiovascular involvement, including pericardial disease and right atrial pseudotumor, are the leading causes of morbidity and mortality.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Erdheim-Chester Disease trials.
BRAF V600E status from tissue biopsy (CD68+/CD1a- histiocytes) is required before applying to BRAF inhibitor trials; if initial biopsy was not tested, reflex BRAF testing on archival tissue may be possible
MEK inhibitor trials (cobimetinib, trametinib) enroll BRAF wild-type and BRAF mutant patients; confirm full MAPK pathway mutation profile including MAP2K1, NRAS, KRAS before applying
Cardiac and CNS involvement staging with cardiac MRI and brain MRI with gadolinium is typically required at screening; compile current imaging within 3 months of application
Patient Resources
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