AI Article Synopsis
- Erdheim-Chester disease is a rare histiocyte disorder with about 750 reported cases, primarily affecting long bones, large vessels, and the central nervous system but can also involve the skin and lungs.
- Diagnosis involves identifying specific foamy histiocytes using immunoperoxidase staining techniques.
- The discovery of a link between Erdheim-Chester disease and the BRAF V600E mutation has led to the exploration of treatment options like vemurafenib, which has shown effectiveness in both this disease and other mutation-related cancers.
Article Abstract
With approximately 750 cases reported, Erdheim-Chester disease is an exceedingly rare histiocyte cell disorder. Affected sites typically include long bones, large vessels and central nervous system. However, cutaneous and pulmonary involvement can also occur. The diagnosis is ascertained by identification of foamy histiocytes positive for CD68, CD163, and factor XIIIa on immunoperoxidase staining. Recently published literature have described an association between Erdheim-Chester disease and BRAF V600E mutation. This finding prompted the investigation of therapeutic possibilities with BRAF inhibitors, successful agents against other mutation-positive diseases. Vemurafenib, a BRAF kinase inhibitor, has been shown to be effective in V600E mutation-positive malignancies, such as NSCLC and melanoma, as well as in several case reports of Erdheim-Chester disease. We report a case of Erdheim-Chester disease diagnosed at our institution, treated with vemurafenib.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5153444 | PMC |
| http://dx.doi.org/10.1016/j.rmcr.2016.11.013 | DOI Listing |
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