ArticleJTO clinical and research reports2022
Performance of an RNA-Based Next-Generation Sequencing Assay for Combined Detection of Clinically Actionable Fusions and Hotspot Mutations in NSCLC.
Article in JTO clinical and research reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 19 citations in OpenAlex.
- Comparison of tissue acquisition techniques for Next-Generation Sequencing of non-small cell lung cancer (NSCLC).BMJ open respiratory research · 2026Article
- Identification of Actionable Gene Variants in Pulmonary Large-Cell Neuroendocrine Carcinoma: A Real-World Analysis of a Polish Cohort.International journal of molecular sciences · 2026Article
- Small Nucleotide Variant Analysis Using RNA Fusion Panel (SMURF): Making the Most of RNAseq Data in Solid Tumours.Journal of clinical laboratory analysis · 2026Article
- A novel one-step multiplex PCR method (OS-MPCR) for efficient NGS library preparation in cancer.PloS one · 2026Article
- Clinical Validation of a Targeted RNA-Sequencing Assay for Driver Gene Alteration Detection in Non-Small Cell Lung Cancer.Molecular diagnosis & therapy · 2025Article
- Review
- Joint DNA-RNA-based NGS for diagnosis and treatment of a rareFrontiers in immunology · 2024Article
- Development, testing and validation of a targeted NGS-panel for the detection of actionable mutations in lung cancer (NSCLC) using anchored multiplex PCR technology in a multicentric setting.Pathology oncology research : POR · 2024Article
- Review
- Retrospective Assessment of Complementary Liquid Biopsy on Tissue Single-Gene Testing for Tumor Genotyping in Advanced NSCLC.Current oncology (Toronto, Ont.) · 2023Article
- Pan-TRK immunohistochemistry as screening tool for NTRK fusions: A diagnostic workflow for the identification of positive patients in clinical practice.Cancer biomarkers : section A of Disease markers · 2023Article
- Clinical Utility Validation of an Automated Ultrarapid Gene Fusion Assay for NSCLC.JTO clinical and research reports · 2022Article
- FGFR1-4 RNA-Based Gene Alteration and Expression Analysis in Squamous Non-Small Cell Lung Cancer.International journal of molecular sciences · 2022Article
- Consensus Recommendations to Optimize Testing for New Targetable Alterations in Non-Small Cell Lung Cancer.Current oncology (Toronto, Ont.) · 2022Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionWith its expanding list of approved and emerging therapeutic indications, NSCLC is the exemplar tumor type requiring upfront assessment of several biomarkers to guide clinical management. Next-generation sequencing allows identification of different types of molecular alterations, each with specific analytical challenges. Library preparation using parallel DNA and RNA workflows can overcome most of them, but it increases complexity of laboratory operations, turnaround time, and costs. We describe the performance characteristics of a 15-gene RNA panel on the basis of anchored multiplex polymerase chain reaction for combined detection of clinically relevant oncogenic fusion transcripts and hotspot small variants.
methodsFormalin-fixed, paraffin-embedded NSCLC clinical samples (N = 58) were used along cell lines and commercial controls to validate the assay's analytical performance, followed by an exploratory prospective cohort (N = 87).
resultsThe raw assay sensitivity for hotspot mutations and fusions was 83% and 93%, respectively, reaching 100% after filtering for key assay metrics. Those include quantity and quality of input of nucleic acid and sequencing metric from primers on housekeeping genes included in the assay. In the prospective cohort, driver alterations were identified in most cases (≥58%).
conclusionsThis ultrafocused RNA-next-generation sequencing assay offers an advantageous option with single unified workflow for simultaneous detection of clinically relevant hotspot mutations and fusions in NSCLC, focusing on actionable gene targets.
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