Related Experiment Video
Updated: Jun 20, 2026
11:15
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
24.9K
Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide
Eiji Nakata1, Kiichiro Ninomiya2, Tatsunori Osone3
1Department of Orthopaedic Surgery, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama, Japan.
Cancer Science
|October 23, 2025
Summary
A new dual DNA-RNA cancer genomic profiling test with matched tumor-normal analysis significantly improves fusion gene detection in sarcoma patients compared to DNA-only tests. This advanced approach enhances diagnostic accuracy and informs targeted therapy decisions.
Area of Science:
- Oncology
- Genomics
- Molecular Diagnostics
Background:
- Comprehensive cancer genomic profiling aids cancer management.
- Current methods often use tumor-only DNA panels from single institutions.
- Japan introduced an insurance-covered dual DNA-RNA panel with matched tumor-normal testing in 2023.
Purpose of the Study:
- Evaluate the utility of a dual DNA-RNA panel against a DNA-only test for sarcoma patient management.
- Compare diagnostic yield and therapeutic implications in a nationwide cohort.
- Assess the impact of matched tumor-normal testing.
Main Methods:
- Retrospective analysis of 1046 sarcoma patients from August 2023 to October 2024.
- Comparison between the GenMine TOP Cancer Genome Profiling System (dual DNA-RNA) and FoundationOne CDx (DNA-only).
- Utilized a nationwide genetic profiling database.
Main Results:
- The dual DNA-RNA test identified more fusion genes (20.3% vs. 7.4%) and targetable kinase fusions (3.5% vs. 1.2%) than the DNA-only test.
- In translocation-related sarcomas, dual panel detected histology-specific fusions in 77.5% vs. 40.0% for DNA-only.
- Dual testing showed higher rates of molecular targeted therapy (4.3% vs. 1.5%) and identified pathogenic germline variants in 5.7% of patients.
Conclusions:
- Dual DNA-RNA panels with matched tumor-normal testing enhance diagnostic accuracy for sarcoma.
- This comprehensive approach improves the identification of actionable genomic alterations.
- Findings support the clinical utility of dual panels for guiding sarcoma treatment decisions.
