Application of cell-free DNA for genomic tumor profiling: a feasibility study.

Access to genomic tumor material is required to select patients for targeted therapies. However, tissue biopsies are not always feasible and therefore circulating cell-free DNA (cfDNA) has emerged as an alternative. Here we investigate the utility of cfDNA for genomic tumor profiling in the phase I setting. Peripheral blood was collected from patients with advanced solid cancers eligible for phase I treatment. Patients failing the initial tissue biopsy due to inaccessible lesions or insufficient tumor cellularity (<10%) were included in the study. Genomic profiling of cfDNA including whole exome sequencing (WES) and somatic copy number alterations (SCNAs) analysis (OncoScan). Plasma cfDNA was pro- and retrospectively profiled from 24 and 20 patients, respectively. The median turnaround time was 29 days ( Plasma cfDNA profiling using WES is feasible within a clinically relevant timeframe and represents an alternative to invasive tissue biopsies to identify possible treatment targets. Especially, difficult-to-biopsy cancers can benefit from cfDNA profiling, but tumor tissue remains the gold standard for molecular analyses.

Déclaration de conflit d'intérêts

CONFLICTS OF INTEREST ES-R has received lecture honoraria from Pfizer, Novartis, Boehringer Ingelheim, and Takeda. MMS has received lecture honoraria and support to participate in scientific conference from Roche. KSR received support to participate in scientific conference from Roche and Sanofi. All remaining authors have declared no conflicts of interest.