title: Determination of somatic oncogenic mutations linked to target-based therapies using MassARRAY technology.
abstract: Somatic mutation analysis represents a useful tool in selecting personalized therapy. The aim of our study was to determine the presence of common genetic events affecting actionable oncogenes using a MassARRAY technology in patients with advanced solid tumors who were potential candidates for target-based therapies. The analysis of 238 mutations across 19 oncogenes was performed in 197 formalin-fixed paraffin-embedded samples of different tumors using the OncoCarta Panel v1.0 (Sequenom Hamburg, Germany). Of the 197 specimens, 97 (49.2%) presented at least one mutation. Forty-nine different oncogenic mutations in 16 genes were detected. Mutations in KRAS and PIK3CA were detected in 40/97 (41.2%) and 30/97 (30.9%) patients respectively. Thirty-one patients (32.0%) had mutations in two genes, 20 of them (64.5%) initially diagnosed with colorectal cancer. The co-occurrence of mutation involved mainly KRAS, PIK3CA, KIT and RET. Mutation profiles were validated using a customized panel and the Junior Next-Generation Sequencing technology (GS-Junior 454, Roche). Twenty-eight patients participated in early clinical trials or received specific treatments according to the molecular characterization (28.0%). MassARRAY technology is a rapid and effective method for identifying key cancer-driving mutations across a large number of samples, which allows for a more appropriate selection for personalized therapies.
authors.affiliation: Hematology and Medical Oncology Unit, Biomedical Research Institute INCLIVA, Valencia, Spain.
authors.forename: Maider
authors.initials: M
authors.lastname: Ibarrola-Villava
authors.affiliation: Hematology and Medical Oncology Unit, Biomedical Research Institute INCLIVA, Valencia, Spain.
authors.forename: Tania
authors.initials: T
authors.lastname: Fleitas
authors.affiliation: Hematology and Medical Oncology Unit, Biomedical Research Institute INCLIVA, Valencia, Spain.
authors.forename: Marta J
authors.initials: MJ
authors.lastname: Llorca-Cardeñosa
authors.affiliation: Department of Pathology, Biomedical Research Institute INCLIVA, Valencia, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Mongort
authors.affiliation: Department of Pathology, Biomedical Research Institute INCLIVA, Valencia, Spain.
authors.forename: Elisa
authors.initials: E
authors.lastname: Alonso
authors.affiliation: Department of Pathology, Biomedical Research Institute INCLIVA, Valencia, Spain.
authors.forename: Samuel
authors.initials: S
authors.lastname: Navarro
authors.affiliation: Department of Pathology, Biomedical Research Institute INCLIVA, Valencia, Spain.
authors.forename: Octavio
authors.initials: O
authors.lastname: Burgues
authors.affiliation: Cancer Genomics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: Vivancos
authors.affiliation: Hematology and Medical Oncology Unit, Biomedical Research Institute INCLIVA, Valencia, Spain.
authors.forename: Juan Miguel
authors.initials: JM
authors.lastname: Cejalvo
authors.affiliation: Hematology and Medical Oncology Unit, Clinic University Hospital of Valencia, Valencia, Spain.
authors.forename: José Alejandro
authors.initials: JA
authors.lastname: Perez-Fidalgo
authors.affiliation: Hematology and Medical Oncology Unit, Clinic University Hospital of Valencia, Valencia, Spain.
authors.forename: Susana
authors.initials: S
authors.lastname: Roselló
authors.affiliation: Hematology and Medical Oncology Unit, Biomedical Research Institute INCLIVA, Valencia, Spain.
authors.forename: Gloria
authors.initials: G
authors.lastname: Ribas
authors.affiliation: Hematology and Medical Oncology Unit, Biomedical Research Institute INCLIVA, Valencia, Spain.|Department of Medicine, University of Valencia, Valencia, Spain.
authors.forename: Andrés
authors.initials: A
authors.lastname: Cervantes
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009369:Neoplasms / Q000235:genetics*; D057285:Precision Medicine / Q000379:methods*; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization / Q000379:methods*
keywords: oncocarta; personalized medicine; somatic oncogene mutations