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Published on: December 9, 2016
RNA-Based Next-Generation Sequencing in Non-Small Cell Lung Cancer patients: data from Campania, Italy
Pasquale Pisapia1, Antonino Iaccarino1, Caterina De Luca1
1Department of Public Health, University of Naples Federico II, Naples, Italy.
Objective:
ALK, ROS1, NTRK, and RET gene fusions and MET exon 14 skipping alterations represent fundamental predictive biomarkers for advanced non-small cell lung cancer (NSCLC) patients to ensure the best treatment choice. In this scenario, RNA-based NGS approach has emerged as an extremely useful tool for detecting these alterations. In this study, we report our NGS molecular records on ALK, ROS1, NTRK, and RET gene fusions and MET exon 14 skipping alterations detected by using a narrow RNA-based NGS panel, namely SiRe fusion.
Methods:
We retrospectively reviewed data on 201 advanced stage NSCLC patients who were referred to our laboratory for RNA-based molecular evaluation of ALK, ROS1, RET, NTRK gene rearrangements as well as MET exon 14 skipping.
Results:
Overall, 23 (11.4%) positive cases were retrieved. Regarding molecular assessment, 11 (5.5%), 2 (1.0%), 9 (4.5%), and 1 (0.5%) out of 201 harbored an ALK, ROS1, RET gene rearrangement, or MET exon 14 skipping, respectively.
Conclusions:
In this study, we provide real-world experience on RNA-based NGS analysis in patients with advanced stage NSCLC.
Insights
RNA-based next-generation sequencing (NGS) effectively detects key biomarkers like ALK, ROS1, NTRK, and RET fusions, and MET exon 14 skipping in non-small cell lung cancer (NSCLC). This study highlights its utility in guiding personalized treatment for advanced NSCLC patients.
Area of Science:
- Oncology
- Molecular Diagnostics
- Genomics
Background:
- Advanced non-small cell lung cancer (NSCLC) requires precise molecular profiling for targeted therapy selection.
- Specific genetic alterations, including ALK, ROS1, NTRK, and RET gene fusions and MET exon 14 skipping, are critical predictive biomarkers.
- RNA-based next-generation sequencing (NGS) is a powerful tool for detecting these fusion and splicing alterations.
Purpose of the Study:
- To evaluate the utility of a targeted RNA-based NGS panel (SiRe fusion) for detecting key driver alterations in advanced NSCLC.
- To report real-world molecular data on ALK, ROS1, NTRK, and RET gene fusions and MET exon 14 skipping.
- To assess the frequency of these actionable alterations in a cohort of advanced NSCLC patients.
Main Methods:
- Retrospective analysis of 201 advanced NSCLC patients.
- Molecular evaluation using a narrow RNA-based NGS panel (SiRe fusion).
- Detection of ALK, ROS1, NTRK, and RET gene rearrangements and MET exon 14 skipping alterations.
Main Results:
- A total of 23 (11.4%) positive cases were identified.
- Specific alterations detected included ALK fusions (5.5%), ROS1 fusions (1.0%), RET fusions (4.5%), and MET exon 14 skipping (0.5%).
- The study demonstrates the feasibility of using a targeted RNA-based NGS panel for comprehensive molecular profiling.
Conclusions:
- RNA-based NGS is a valuable method for identifying actionable genomic alterations in advanced NSCLC.
- The findings provide real-world evidence supporting the use of this approach for personalized medicine in NSCLC.
- This molecular information is crucial for guiding optimal treatment strategies in NSCLC patients.

