Journal
CANCERS
Volume 13, Issue 1, Pages -Publisher
MDPI
DOI: 10.3390/cancers13010139
Keywords
predictive molecular pathology; next generation sequencing; gene fusions; targeted therapy; NSCLC
Categories
Funding
- Monitoraggio ambientale, studio ed approfondimento della salute della popolazione residente in aree a rischio-In attuazione della D.G.R. Campanian [180/2019]
- POR Campania FESR 2014-2020 Progetto Sviluppo di Approcci Terapeutici Innovativi per patologie Neoplastiche resistenti ai trattamenti-SATIN
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Gene fusions are important predictive biomarkers for advanced NSCLC patients. A narrow NGS gene panel was developed and validated to cover relevant gene fusions and splicing events, demonstrating high efficiency in detecting these events in routine clinical samples.
Simple Summary Gene fusions represent novel predictive biomarkers for advanced Non Small Cell Lung Cancer (NSCLC) patients. In this study, we developed and validated a narrow Next Generation Sequencing gene panel able to cover ALK, ROS1, RET and NTRK gene fusions and MET splicing events in advanced-stage NSCLC patients. Overall, our RNA fusion panel was able to detect all fusions and a splicing event harbored in a RNA pool diluted up to 2 ng/mu L. In addition, It also successfully analyzed 46 (95.8%) out of 48 routine samples previously characterized by conventional non - NGS technology, representing a robust tool for routine setting. Gene fusions represent novel predictive biomarkers for advanced non-small cell lung cancer (NSCLC). In this study, we validated a narrow NGS gene panel able to cover therapeutically-relevant gene fusions and splicing events in advanced-stage NSCLC patients. To this aim, we first assessed minimal complementary DNA (cDNA) input and the limit of detection (LoD) in different cell lines. Then, to evaluate the feasibility of applying our panel to routine clinical samples, we retrospectively selected archived lung adenocarcinoma histological and cytological (cell blocks) samples. Overall, our SiRe RNA fusion panel was able to detect all fusions and a splicing event harbored in a RNA pool diluted up to 2 ng/mu L. It also successfully analyzed 46 (95.8%) out of 48 samples. Among these, 43 (93.5%) out of 46 samples reproduced the same results as those obtained with conventional techniques. Intriguingly, the three discordant results were confirmed by a CE-IVD automated real-time polymerase chain reaction (RT-PCR) analysis (Easy PGX platform, Diatech Pharmacogenetics, Jesi, Italy). Based on these findings, we conclude that our new SiRe RNA fusion panel is a valid and robust tool for the detection of clinically relevant gene fusions and splicing events in advanced NSCLC.
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