BRAF V600E mutations in urine and plasma cell-free DNA from patients with Erdheim-Chester disease

Filip Janku, Cecile Rose T Vibat, Karena Kosco, Veronica R Holley, Goran Cabrilo, Funda Meric-Bernstam, Vanda M Stepanek, Patrick P Lin, Lorieta Leppin, Latifa Hassaine, Jason C Poole, Razelle Kurzrock, Mark G Erlander, Filip Janku, Cecile Rose T Vibat, Karena Kosco, Veronica R Holley, Goran Cabrilo, Funda Meric-Bernstam, Vanda M Stepanek, Patrick P Lin, Lorieta Leppin, Latifa Hassaine, Jason C Poole, Razelle Kurzrock, Mark G Erlander

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.

Figures

https://www.ncbi.nlm.nih.gov/pmc/articles/instance/4116506/bin/oncotarget-05-3607-g001.jpg

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Source: PubMed

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