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Updated: Jul 21, 2026

Targeted RNA Sequencing Assay to Characterize Gene Expression and Genomic Alterations
Published on: August 4, 2016
Molecular analysis of non-small cell lung cancer using a dual-targeted DNA and RNA comprehensive genomic profiling
Hidenori Kage1, Shinji Kohsaka2, Kenji Tatsuno3
1The Department of Respiratory Medicine, The University of Tokyo, 7-3-1 Hongo Bunkyo-ku, Tokyo, 113-8655, Japan.
Background:
Comprehensive cancer genomic profiling tests have recently been used clinically to guide optimal treatment. Currently approved tests use DNA from tissue or plasma samples to analyze a few hundred genes. RNA panels complement DNA panels to detect fusion and exon skipping.
Methods:
Between April 2017 and March 2022, we analyzed non-small cell lung cancer samples using Todai OncoPanel, a matched tumor/normal pair panel targeting both DNA and RNA. Publicly available genomic data was downloaded from the Center for Cancer Genomics and Advanced Therapeutics database on 2022/11/3.
Results:
Sixty non-small cell lung cancer (NSCLC) samples were analyzed. With the DNA panel, 32 samples (53%) had TP53 loss-of-function mutations. Among adenocarcinoma, 17 (33%) had EGFR activating mutations, and 6 (12%) had ERBB2 activating mutations. One BRCA1 and one BRCA2 pathogenic germline variant were also detected. With the RNA panel, 11 fusion genes were detected, all in adenocarcinoma. Specifically, EML4-ALK and KIF5B-RET were detected from one sample each, and 9 others were all novel fusions with unknown pathogenicity. In addition, 4 of 60 (7%) NSCLC samples harbored MET exon 14 skipping. Analysis of the Center for Cancer Genomics and Advanced Therapeutics database found 37 MET exon 14 splice site mutations in 1514 NSCLC samples (2%, p = 0.039).
Conclusions:
Analysis of NSCLC with Todai OncoPanel detected many druggable targets. Its RNA panel may detect MET exon 14 skipping with high sensitivity.
Insights
The Todai OncoPanel effectively identified actionable genomic alterations in non-small cell lung cancer (NSCLC), including druggable targets and potential for sensitive detection of MET exon 14 skipping using its RNA panel.
Area of Science:
- Genomic Medicine
- Oncology
- Molecular Diagnostics
Background:
- Comprehensive cancer genomic profiling guides treatment decisions.
- Current tests analyze DNA from tissue or plasma for hundreds of genes.
- RNA panels detect fusions and exon skipping, complementing DNA analysis.
Purpose of the Study:
- To evaluate the Todai OncoPanel, a DNA and RNA targeted sequencing panel, for comprehensive genomic profiling of non-small cell lung cancer (NSCLC).
- To identify actionable genomic alterations and assess the panel's sensitivity for detecting specific mutations like MET exon 14 skipping.
Main Methods:
- Analyzed 60 NSCLC samples using the Todai OncoPanel (DNA and RNA) between April 2017 and March 2022.
- Utilized matched tumor/normal pairs for analysis.
- Downloaded publicly available genomic data from a cancer genomics database for comparison.
Main Results:
- TP53 loss-of-function mutations (53%) and EGFR/ERBB2 activating mutations (33%/12% in adenocarcinoma) were detected by the DNA panel.
- The RNA panel identified 11 fusion genes (all in adenocarcinoma) and detected MET exon 14 skipping in 7% of NSCLC samples.
- A significantly higher prevalence of MET exon 14 splice site mutations was observed in the public database (2%) compared to the study cohort (p=0.039).
Conclusions:
- The Todai OncoPanel successfully identified numerous druggable targets in NSCLC.
- The RNA component of the panel demonstrates high sensitivity for detecting MET exon 14 skipping.
- This comprehensive profiling approach aids in identifying potential therapeutic strategies for NSCLC patients.
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