title: Applications for quantitative measurement of BRAF V600 mutant cell-free tumor DNA in the plasma of patients with metastatic melanoma.
abstract: Small fragments of cell-free DNA that are shed by normal and tumor cells can be detected in the plasma of patients with advanced melanoma. Quantitative measurement of BRAF V600 mutant DNA within the cell-free DNA holds promise as a tumor-specific biomarker for diagnosis and therapeutic monitoring in patients with BRAF V600 mutant melanoma. Allele-specific quantitative PCR analysis for BRAF V600 E/E2/D/K/R/M mutations on DNA extracted from 1 ml of plasma is currently under evaluation in a number of ongoing prospective clinical studies. We report five patient cases that indicate the potential applications and utility of quantitative measurements of BRAF V600 mutant cell-free tumor DNA as a diagnostic test and as a therapeutic monitoring tool in stage IV melanoma patients treated with BRAF-targeted therapy or immunotherapy. Finally, we offer novel insights into the dynamics of cell-free tumor DNA in melanoma.
authors.affiliation: aDepartment of Medical Oncology, Universitair Ziekenhuis Brussel (UZ Brussel), Vrije Universiteit Brussel (VUB), Brussels bBiocartis, Mechelen cDepartment of Dermatology, Universitair Ziekenhuis Gent (UZ Gent), Universiteit Gent (UGent), Ghent, Belgium.
authors.forename: Max
authors.initials: M
authors.lastname: Schreuer
authors.forename: Geert
authors.initials: G
authors.lastname: Meersseman
authors.forename: Sari
authors.initials: S
authors.lastname: van Den Herrewegen
authors.forename: Yanina
authors.initials: Y
authors.lastname: Jansen
authors.forename: Teofila
authors.initials: T
authors.lastname: Seremet
authors.forename: Ambre
authors.initials: A
authors.lastname: Bott
authors.forename: Ines
authors.initials: I
authors.lastname: Chevolet
authors.forename: Sofie
authors.initials: S
authors.lastname: Wilgenhof
authors.forename: Geert
authors.initials: G
authors.lastname: Maertens
authors.forename: Bart
authors.initials: B
authors.lastname: Neyns
mesh_terms: D000328:Adult; D000368:Aged; D004273:DNA, Neoplasm / Q000097:blood* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008545:Melanoma / Q000097:blood / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009367:Neoplasm Staging; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D012878:Skin Neoplasms / Q000201:enzymology / Q000235:genetics* / Q000473:pathology
chemical_list: D004273:DNA, Neoplasm; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf