Research Papers:

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 and Mark G. Erlander

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Oncotarget. 2014; 5:3607-3610. https://doi.org/10.18632/oncotarget.1964

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Filip Janku1, Cecile Rose T. Vibat2, Karena Kosco2, Veronica R. Holley1, Goran Cabrilo1, Funda Meric-Bernstam1, Vanda M. Stepanek1, Patrick P. Lin3, Lorieta Leppin2, Latifa Hassaine2, Jason C. Poole2, Razelle Kurzrock4 and Mark G. Erlander2

1 Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center

2 Trovagene Inc. San Diego, CA

3 Department of Orthopedic Oncology, The University of Texas MD Anderson Cancer Center

4 Moores Cancer Center, The University of California San Diego, La Jolla, CA


Filip Janku, email:

Keywords: BRAF, cell-free DNA, plasma, urine, Erdheim-Chester disease

Received: March 12, 2014 Accepted: May 12, 2014 Published: May 13, 2014


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.

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