Associated Genetic Biomarkers
NCI Definition: A very rare, multisystem non-Langerhans cell histiocytosis that predominantly affects adults. It is characterized by the proliferation in the tissues of lipid-laden macrophages and the presence of multinucleated giant cells. It results in sclerosis of the long bones and failure of the affected organs. Patients may present with bone pain, exophthalmos, ataxia, liver failure, kidney failure, and hypopituitarism. 
Erdheim-Chester diseases most frequently harbor alterations in BRAF, MAP2K1, DNMT3A, KRAS, and ARAF .
BRAF V600E, BRAF Mutation, BRAF Exon 15 Mutation, BRAF Codon 600 Missense, and MAP2K1 Mutation are the most common alterations in Erdheim-Chester disease .
Of the biomarker-directed therapies for Erdheim-Chester disease, 1 is FDA-approved in at least one setting and 0 have NCCN guidelines in at least one setting .
Disease is predicted to be sensitive: -
There are 2 clinical trials for Erdheim-Chester disease, of which 1 is open and 1 is completed or closed. Of the trials that contain Erdheim-Chester disease as an inclusion criterion, 2 are phase 2 (1 open).
BRAF is the most frequent gene inclusion criterion for Erdheim-Chester disease clinical trials .
Cobimetinib, dabrafenib, and trametinib are the most common interventions in Erdheim-Chester disease clinical trials.
Significant Genes in Erdheim-Chester Disease
BRAF is altered in 18.75% of Erdheim-Chester disease patients .
BRAF is an inclusion eligibility criterion in 1 clinical trial for Erdheim-Chester disease, of which 0 are open and 1 is closed. Of the trial that contains BRAF status and Erdheim-Chester disease as inclusion criteria, 1 is phase 2 (0 open) .
Vemurafenib has evidence of efficacy in patients with BRAF mutation in Erdheim-Chester disease .
2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.