title: BRAF V600E mutations in urine and plasma cell-free DNA from patients with Erdheim-Chester disease.
abstract: 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 V600E mutation in cfDNA from the plasma and urine of 6 ECD patients. In patients with available archival tissue, the result of BRAF mutation analysis was concordant with plasma and urine cfDNA results in all 3 patients (100% agreement, kappa 1.00). In all 6 patients, BRAF mutation analysis of plasma and urine cfDNA was concordant in 5 of 6 patients (83% agreement, kappa 0.67). Testing for BRAF V600E mutation in plasma and urine cfDNA should be further investigated as an alternative to archival tissue mutation analysis.
authors.affiliation: Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center.
authors.forename: Filip
authors.initials: F
authors.lastname: Janku
authors.forename: Cecile Rose T
authors.initials: CR
authors.lastname: Vibat
authors.forename: Karena
authors.initials: K
authors.lastname: Kosco
authors.forename: Veronica R
authors.initials: VR
authors.lastname: Holley
authors.forename: Goran
authors.initials: G
authors.lastname: Cabrilo
authors.forename: Funda
authors.initials: F
authors.lastname: Meric-Bernstam
authors.forename: Vanda M
authors.initials: VM
authors.lastname: Stepanek
authors.forename: Patrick P
authors.initials: PP
authors.lastname: Lin
authors.forename: Lorieta
authors.initials: L
authors.lastname: Leppin
authors.forename: Latifa
authors.initials: L
authors.lastname: Hassaine
authors.forename: Jason C
authors.initials: JC
authors.lastname: Poole
authors.forename: Razelle
authors.initials: R
authors.lastname: Kurzrock
authors.forename: Mark G
authors.initials: MG
authors.lastname: Erlander
mesh_terms: D000328:Adult; D000368:Aged; D004247:DNA / Q000097:blood* / Q000235:genetics; D004252:DNA Mutational Analysis; D031249:Erdheim-Chester Disease / Q000097:blood / Q000201:enzymology* / Q000235:genetics* / Q000652:urine; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011379:Prognosis; D011446:Prospective Studies; D048493:Proto-Oncogene Proteins B-raf / Q000097:blood / Q000235:genetics* / Q000652:urine
chemical_list: D004247:DNA; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf