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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

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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...
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