Erdheim-Chester Disease (ECD)
Overview
Erdheim-Chester Disease is a Histiocytosis (parent HDCN).
Cohorts in the corpus
- makeanimpact_ccr_2023: ECD was part of the histiocytosis cohort (n=84 profiled) enrolled via direct-to-patient outreach and profiled on MSK-IMPACT PMID:36862133.
Recurrent alterations
- Across histiocytosis: BRAF 33% (mostly V600E), MAP2K1 13%, KRAS 7%, CSF1R 2.4% PMID:36862133.
- Actionable fusions in histiocytosis: MS4A6A-BRAF, DOCK8-BRAF, HLA-A-BRAF, TFG-ALK, and PRDX1-NTRK1 (detected by RNA-seq) PMID:36862133.
Subtypes
- ECD and LCH together constitute the histiocytosis cohort in this study PMID:36862133.
Therapeutic landscape
- 47/84 (56%) histiocytosis patients had a potentially actionable alteration; 18 received matched targeted therapy; 17/18 (94%) had clinical benefit with mean treatment duration 21.7 months PMID:36862133.
- MAPK-pathway matched therapy (vemurafenib, dabrafenib, trametinib, cobimetinib, ERK inhibitors on trial) produced high rates of clinical benefit PMID:36862133.
- ECD tumors represented in the 97,024-sample pan-cancer BRAF fusion cohort at MSK; BRAF fusions spanning 52 histologies included rare histiocytic malignancies PMID:38922339.
- One PIK3CA-mutant histiocytosis patient had a durable response to alpelisib PMID:36862133.
Sources
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