Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
ID | DOID:4329 |
Name | Erdheim-Chester disease |
Definition | A non-Langerhans-cell histiocytosis that 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. |
Source | DiseaseOntology.org |
Alt Ids | |
Path | disease disease of anatomical entity immune system disease lymphatic system disease histiocytosis non-Langerhans-cell histiocytosis Erdheim-Chester disease |
Molecular Profile | Therapy | Indication/Tumor Type | Response Type | Profile Response Detail |
---|---|---|---|---|
MAP2K1 Q56P | Cobimetinib | Erdheim-Chester disease | predicted - sensitive | detail... |
BRAF V600E | Vemurafenib | Erdheim-Chester disease | sensitive | detail... |
BRAF V600E | Dabrafenib | Erdheim-Chester disease | sensitive | detail... |
ALK fusion | Crizotinib | Erdheim-Chester disease | sensitive | detail... |
PIK3CA mutant | Sirolimus | Erdheim-Chester disease | sensitive | detail... |
PIK3CA mutant | Everolimus | Erdheim-Chester disease | sensitive | detail... |
RET fusion | Selpercatinib | Erdheim-Chester disease | sensitive | detail... |
NRAS mutant | Cobimetinib | Erdheim-Chester disease | sensitive | detail... |
MAP2K1 mutant | Cobimetinib | Erdheim-Chester disease | sensitive | detail... |
PIK3CA mutant | Cobimetinib | Erdheim-Chester disease | sensitive | detail... |
PIK3CA mutant | Trametinib | Erdheim-Chester disease | sensitive | detail... |
MAP2K1 mutant | Trametinib | Erdheim-Chester disease | sensitive | detail... |
NRAS mutant | Trametinib | Erdheim-Chester disease | sensitive | detail... |
ALK fusion | Alectinib | Erdheim-Chester disease | sensitive | detail... |
ALK fusion | Brigatinib | Erdheim-Chester disease | sensitive | detail... |
ALK fusion | Ceritinib | Erdheim-Chester disease | sensitive | detail... |
ALK fusion | Lorlatinib | Erdheim-Chester disease | sensitive | detail... |
BRAF fusion | Cobimetinib | Erdheim-Chester disease | predicted - sensitive | detail... |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|---|---|---|---|---|---|
NCT04079179 | Phase II | Cobimetinib | Cobimetinib in Refractory Langerhans Cell Histiocytosis (LCH), and Other Histiocytic Disorders (NACHO COBI) | Recruiting | USA | 0 |
NCT04198818 | Phase Ib/II | HH2710 | A Study to Evaluate the Safety, Tolerability and Pharmacokinetics of HH2710 in Patient With Advanced Tumors | Terminated | USA | 1 |