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

Cancers

Michele Caraglia¹  Angela Lombardi¹  Renato Franco²  Floriana Morgillo³  Erika Martinelli³  Marinella Terminiello³  Stefania Napolitano³  Fortunato Ciardiello³  Claudia Cardone³  Gianluca Arrichiello³  EmilioFrancesco Giunta³  Vincenzo De Falco³  Ferdinando De Vita³  Nicoletta Zanaletti³  PietroPaolo Vitiello³  Valentina Mattera Iacono³  Vincenza Caputo³  Alessandra Di Liello³  Davide Ciardiello³  Luca Poliero³  Pasquale Vitale³  Carola Borrelli³  Teresa Troiani³  Francesca Marrone³  Vincenzo Famiglietti³  Giulia Martini³ 

[1] Department of Experimental Medicine, Università della Campania “Luigi Vanvitelli”, 80138 Napoli, Italy;Department of Mental and Physical Health and Preventive Medicine, Pathology Unit, Università della Campania “Luigi Vanvitelli”, 80138 Napoli, Italy;Department of Precision Medicine, Università della Campania “Luigi Vanvitelli”, 80131 Napoli, Italy;

关键词: colorectal cancer;    liquid biopsy;    ras testing;    anti-egfr;    acquired resistance;    clonal evolution;   

DOI  :  10.3390/cancers11101504

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown