Determination of somatic oncogenic mutations linked to target-based therapies using MassARRAY technology
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Maider Ibarrola-Villava1,*, Tania Fleitas1,*, Marta J. Llorca-Cardeñosa1, Cristina Mongort2, Elisa Alonso2, Samuel Navarro2, Octavio Burgues2, Ana Vivancos3, Juan Miguel Cejalvo1, José Alejandro Perez-Fidalgo4, Susana Roselló4, Gloria Ribas1, Andrés Cervantes1,5
1Hematology and Medical Oncology Unit, Biomedical Research Institute INCLIVA, Valencia, Spain
2Department of Pathology, Biomedical Research Institute INCLIVA, Valencia, Spain
3Cancer Genomics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain
4Hematology and Medical Oncology Unit, Clinic University Hospital of Valencia, Valencia, Spain
5Department of Medicine, University of Valencia, Valencia, Spain
*These authors have contributed equally to this work
Gloria Ribas, e-mail: [email protected]
Andres Cervantes, e-mail: [email protected]
Keywords: somatic oncogene mutations, personalized medicine, oncocarta
Received: October 13, 2015 Accepted: February 24, 2016 Published: March 9, 2016
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.
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