Clinical application of targeted next-generation sequencing for colorectal cancer patients: a multicentric Belgian experience

Autor: André Gilles, Jean-Luc Van Laethem, Pieter Demetter, Carine De Prez, Oriane Blanchard, Isabelle Salmon, Laurine Verset, Marie Le Mercier, Quitterie Fontanges, Bárbara Meléndez, Monique Delos, Nathalie Nagy, Marie-Paule Van Craynest, Marie-Françoise Dehou, Emmanuel Rousseau, Nancy De Nève, Josse Vandenhove, Nicky D'Haene, Calliope Maris
Jazyk: angličtina
Rok vydání: 2018
Předmět:
Zdroj: Oncotarget
Oncotarget, 9 (29
ISSN: 1949-2553
Popis: International guidelines made RAS (KRAS and NRAS) status a prerequisite for the use of anti-EGFR agents for metastatic colorectal cancer (CRC) patients. Daily, new data emerges on the theranostic and prognostic role of molecular biomarkers; this is a strong incentive for a validated, sensitive, and broadly available molecular screening test. Next-generation sequencing (NGS) has begun to supplant other technologies for genomic profiling. We report here our 2 years of clinical practice using NGS results to guide therapeutic decisions. The Ion Torrent AmpliSeq colon/lung cancer panel, which allows mutation detection in 22 cancer-related genes, was prospectively used in clinical practice (BELAC ISO 15189 accredited method). The DNA of 741 formalin-fixed paraffinembedded CRC tissues, including primary tumors and metastasis, was obtained from 14 different Belgian institutions and subjected to targeted NGS. Of the tumors tested, 98% (727) were successfully sequenced and 89% (650) harbored at least one mutation. KRAS, BRAF and NRAS mutations were found in 335 (46%), 78 (11%) and 32 (4%) samples, respectively. These mutation frequencies were consistent with those reported in public databases. Moreover, mutations and amplifications in potentially actionable genes were identified in 464 samples (64%), including mutations in PIK3CA (14%), ERBB2 (0.4%), AKT1 (0.6%), and MAP2K1 (0.1%), as well as amplifications of ERBB2 (0.3%) and EGFR (0.3%). The median turnaround time between reception of the sample in the laboratory and report release was 8 calendar days. Overall, the AmpliSeq colon/lung cancer panel was successfully applied in daily practice and provided reliable clinically relevant information for CRC patients.
SCOPUS: ar.j
info:eu-repo/semantics/published
Databáze: OpenAIRE