par D'Haene, Nicky
;Rousseau, Emmanuel;Vandenhove, Josse;Gilles, André;Deprez, Carine
;Verset, Laurine
;Van Craynest, Marie Paule;Demetter, Pieter
;Van Laethem, Jean-Luc
;Salmon, Isabelle
;Le Mercier, Marie
;Fontanges, Quitterie
;De Nève, Nancy;Blanchard, Oriane
;Melendez, Barbara;Delos, Monique;Dehou, Marie France
;Maris, Calliope
;Nagy, Nathalie 
Référence Oncotarget, 9, 29, page (20761-20768)
Publication Publié, 2018-04












Référence Oncotarget, 9, 29, page (20761-20768)
Publication Publié, 2018-04
Article révisé par les pairs
Résumé : | 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. |