title: cfDNA analysis from blood in melanoma.
abstract: Testing of tumor tissue remains the recommended method for detecting the presence of somatic mutations in human malignancies. V600E is the most frequent somatic point mutation in metastatic melanoma, providing a unique molecular marker for this malignancy. In addition, tumors carrying this mutation are primary candidates for BRAF-targeted therapy. Although metastatic melanoma patients usually have sufficient tumor tissue available for genetic analyses, the detection of V600E in blood can have prognostic and predictive value. In addition, patients are rarely re-biopsied and genetic testing in blood can be useful for monitoring response to therapy. Cell-free DNA (cfDNA) and cell-free RNA (cfRNA), RNA associated to platelets and circulating tumor cells (CTCs) are some of the materials that can be derived from the blood of cancer patients. cfDNA can be easily purified from serum and plasma and contains DNA fragments of tumor origin. For this reason, it is the most widely used material for the detection of somatic mutations in blood. Several methodologies have been used to determine V600E status in the cfDNA of metastatic melanoma and some studies have demonstrated that the identification and follow-up of V600E in cfDNA can have prognostic and predictive value.
authors.affiliation: 1 Laboratory of Oncology/Pangaea Biotech S.L, Hospital Quiron Dexeus, Barcelona, Spain ; 2 Translational Cancer Research Unit, Instituto Oncológico Dr Rosell, Quirón Dexeus University Hospital, Barcelona, Spain ; 3 Catalan Institute of Oncology, Hospital Germans Trias i Pujol Badalona, Barcelona, Spain.
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Molina-Vila
authors.affiliation: 1 Laboratory of Oncology/Pangaea Biotech S.L, Hospital Quiron Dexeus, Barcelona, Spain ; 2 Translational Cancer Research Unit, Instituto Oncológico Dr Rosell, Quirón Dexeus University Hospital, Barcelona, Spain ; 3 Catalan Institute of Oncology, Hospital Germans Trias i Pujol Badalona, Barcelona, Spain.
authors.forename: Clara Mayo
authors.initials: CM
authors.lastname: de-Las-Casas
authors.affiliation: 1 Laboratory of Oncology/Pangaea Biotech S.L, Hospital Quiron Dexeus, Barcelona, Spain ; 2 Translational Cancer Research Unit, Instituto Oncológico Dr Rosell, Quirón Dexeus University Hospital, Barcelona, Spain ; 3 Catalan Institute of Oncology, Hospital Germans Trias i Pujol Badalona, Barcelona, Spain.
authors.forename: Jordi
authors.initials: J
authors.lastname: Bertran-Alamillo
authors.affiliation: 1 Laboratory of Oncology/Pangaea Biotech S.L, Hospital Quiron Dexeus, Barcelona, Spain ; 2 Translational Cancer Research Unit, Instituto Oncológico Dr Rosell, Quirón Dexeus University Hospital, Barcelona, Spain ; 3 Catalan Institute of Oncology, Hospital Germans Trias i Pujol Badalona, Barcelona, Spain.
authors.forename: Nuria
authors.initials: N
authors.lastname: Jordana-Ariza
authors.affiliation: 1 Laboratory of Oncology/Pangaea Biotech S.L, Hospital Quiron Dexeus, Barcelona, Spain ; 2 Translational Cancer Research Unit, Instituto Oncológico Dr Rosell, Quirón Dexeus University Hospital, Barcelona, Spain ; 3 Catalan Institute of Oncology, Hospital Germans Trias i Pujol Badalona, Barcelona, Spain.
authors.forename: María
authors.initials: M
authors.lastname: González-Cao
authors.affiliation: 1 Laboratory of Oncology/Pangaea Biotech S.L, Hospital Quiron Dexeus, Barcelona, Spain ; 2 Translational Cancer Research Unit, Instituto Oncológico Dr Rosell, Quirón Dexeus University Hospital, Barcelona, Spain ; 3 Catalan Institute of Oncology, Hospital Germans Trias i Pujol Badalona, Barcelona, Spain.
authors.forename: Rafael
authors.initials: R
authors.lastname: Rosell
keywords: BRAF; circulating-free RNA (cfDNA); melanoma; plasma; serum