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.
Highlights
Cancer is a complex group of diseases with many possible causes
The goal of this study was to characterize the presence of common somatic mutations affecting known oncogenes in resected solid tumors that could provide potential therapeutic targets
A comprehensive characterization of several cancer genomes has been made possible as a result of the development of next generation sequencing (NGS) technologies
Summary
Cancer is a complex group of diseases with many possible causes. It can be partly explain as a result of a progressive accumulation of mutations in cellular DNA, which provides a selective growth advantage to cancer cells and facilitates metastasis. Hotspot mutations are frequently present within oncogenes while some other aberrations are found in tumor suppressor genes in common solid tumors. The deregulation of certain signaling pathways, together with chromosomal abnormalities, has been identified in different solid tumors. Different oncogenic events have been described in cancer including mainly mutations in the RAS/RAF/MAPK and the PIK3/PTEN/AKT pathways. Mutations affecting the coding sequences of these specific genes are the hallmark of the disease and are currently targeted in clinical trials [1]
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