Overview

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. [1]

Erdheim-Chester diseases most frequently harbor alterations in BRAF, MAP2K1, DNMT3A, KRAS, and ARAF [2].

BRAF V600E, BRAF Mutation, BRAF Exon 15 Mutation, BRAF Codon 600 Missense, and MAP2K1 Mutation are the most common alterations in Erdheim-Chester disease [2].

Significant Genes in Erdheim-Chester Disease

Disease Details

References

1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

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.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.