BRAF V600E mutations in urine and plasma cell-free DNA from patients with Erdheim-Chester disease. Oncotarget 2014 Jun 15;5(11):3607-10
Date
07/09/2014Pubmed ID
25003820Pubmed Central ID
PMC4116506DOI
10.18632/oncotarget.1964Scopus ID
2-s2.0-84903512238 (requires institutional sign-in at Scopus site) 62 CitationsAbstract
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.
Author List
Janku F, Vibat CR, Kosco K, Holley VR, Cabrilo G, Meric-Bernstam F, Stepanek VM, Lin PP, Leppin L, Hassaine L, Poole JC, Kurzrock R, Erlander MGAuthor
Razelle Kurzrock MD Center Associate Director, Professor in the Medicine department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdultAged
DNA
DNA Mutational Analysis
Erdheim-Chester Disease
Female
Humans
Male
Middle Aged
Mutation
Prognosis
Prospective Studies
Proto-Oncogene Proteins B-raf
