Article
BRAFV600E-mutation is invariably present and associated to oncogene-induced senescence in Erdheim-Chester disease.
Annals of the rheumatic diseases - 1 Aug 2015
Cangi Maria Giulia, Biavasco Riccardo, Cavalli Giulio, Grassini Greta, Dal-Cin Elena, Campochiaro Corrado, Guglielmi Barbara, Berti Alvise, Lampasona Vito, von Deimling Andreas, Sabbadini Maria Grazia, Ferrarini Marina, Doglioni Claudio, Dagna Lorenzo
Abstract excerpt
OBJECTIVES: Erdheim-Chester disease (ECD) is a rare form of histiocytosis characterised by uncontrolled chronic inflammation. The oncogenic BRAF(V600E) mutation has been reported in biopsies in 19 out of 37 patients with ECD from the largest published cohort, but never found in the patients' peripheral blood. Also, the role of the mutation in the pathogenesis of the disease has not been elucidated yet....
Topics
- Adult
- Aged
- Cellular Senescence
- Erdheim-Chester Disease
- Female
- Histiocytes
- Humans
- Immunohistochemistry
- Inflammation
- Leukocytes, Mononuclear