Article
BRAF V600E mutations in urine and plasma cell-free DNA from patients with Erdheim-Chester disease.
Oncotarget - 15 Jun 2014
Janku Filip, Vibat Cecile Rose T, Kosco Karena, Holley Veronica R, Cabrilo Goran, Meric-Bernstam Funda, Stepanek Vanda M, Lin Patrick P, Leppin Lorieta, Hassaine Latifa, Poole Jason C, Kurzrock Razelle, Erlander Mark G
Abstract excerpt
Erdheim-Chester disease (ECD) is a rare histiocytosis with a high prevalence of BRAF V600E mutation (>50% of patients). Patients with BRAF-mutant ECD can respond to BRAF inhibitors. Unfortunately, the lack of adequate archival tissue often precludes BRAF testing. We hypothesized that cell-free DNA (cfDNA) from plasma or urine can offer an alternative source of biologic material for testing. We tested for BRAF...
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