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Clinical Practice Use of Liquid Biopsy to Identify RAS/BRAF Mutations in Patients with Metastatic Colorectal Cancer (mCRC): A Single Institution Experience

1
Department of Precision Medicine, Università della Campania “Luigi Vanvitelli”, 80131 Napoli, Italy
2
Centro Cellex, Vall D’Hebron Institute of Oncology (VHIO), 08035 Barcelona, Spain
3
Department of Gastrointestinal Medical Oncology, University of Texas, MD Anderson Cancer Center, Houston, TX 77030, USA
4
Department of Experimental Medicine, Università della Campania “Luigi Vanvitelli”, 80138 Napoli, Italy
5
Department of Mental and Physical Health and Preventive Medicine, Pathology Unit, Università della Campania “Luigi Vanvitelli”, 80138 Napoli, Italy
*
Author to whom correspondence should be addressed.
These authors equally contributed to the work.
Cancers 2019, 11(10), 1504; https://doi.org/10.3390/cancers11101504
Received: 9 August 2019 / Revised: 21 September 2019 / Accepted: 2 October 2019 / Published: 8 October 2019
Tumor heterogeneity represents a possible cause of error in detecting predictive genetic alterations on tumor tissue and can be overcome by testing alterations in circulating tumor DNA (ctDNA) using liquid biopsy. We assessed 72 consecutive patients with a diagnosis of metastatic colorectal cancer (mCRC) using Idylla™ Biocartis, a fully automated platform that evaluates the most frequent mutations of KRAS, NRAS and BRAF genes. We correlated the results of liquid biopsy and standard tissue-based next generation sequencing (NGS) analyses to patient clinical features. The overall agreement was 81.94%. Concordance was 85.71% and 96.15% in treatment-naïve patients and in the patient subgroup with liver metastases, respectively. In liver metastases positive, treatment-naïve patients, sensitivity, specificity and positive predictive value (PPV) were 92.31%, 100% and 100%, respectively. Circulating mutational fraction (CMF) was significantly higher in patients with liver metastases and high carcinoembryonic antigen (CEA) levels. In a subgroup of patients pre-treated with anti-Epidermal Growth Factor Receptor (EGFR) agents, emerging KRAS mutations were evidenced in 33% of cases. Testing RAS/BRAF mutations on plasma using the Idylla™ Biocartis platform is feasible and reliable in mCRC patients in clinical practice. View Full-Text
Keywords: colorectal cancer; liquid biopsy; RAS testing; anti-EGFR; acquired resistance; clonal evolution colorectal cancer; liquid biopsy; RAS testing; anti-EGFR; acquired resistance; clonal evolution
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Vitiello, P.P.; De Falco, V.; Giunta, E.F.; Ciardiello, D.; Cardone, C.; Vitale, P.; Zanaletti, N.; Borrelli, C.; Poliero, L.; Terminiello, M.; Arrichiello, G.; Caputo, V.; Famiglietti, V.; Mattera Iacono, V.; Marrone, F.; Di Liello, A.; Martini, G.; Napolitano, S.; Caraglia, M.; Lombardi, A.; Franco, R.; De Vita, F.; Morgillo, F.; Troiani, T.; Ciardiello, F.; Martinelli, E. Clinical Practice Use of Liquid Biopsy to Identify RAS/BRAF Mutations in Patients with Metastatic Colorectal Cancer (mCRC): A Single Institution Experience. Cancers 2019, 11, 1504.

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