Next-Generation Sequencing-Based Cancer Genomic Profiling Enhances Diagnostic Accuracy

Strategic Insights -

Researchers at the Okayama University Graduate School of Medicine, led by Kiichiro Ninomiya, have conducted a comparative analysis of a dual DNA-RNA panel and a DNA-only panel for sarcoma patients, utilizing a nationwide genetic profiling database. The study, which included 1046 patients registered between August 2023 and October 2024, found that the dual DNA-RNA test identified significantly more fusion genes (20.3% vs. 7.4%, p<0.001) compared to the conventional DNA-only test (FoundationOne CDx). This suggests that a dual DNA-RNA panel with matched tumor-normal testing may improve diagnostic accuracy and inform treatment decisions in the routine clinical management of sarcoma.

Key Takeaways:

  • The dual DNA-RNA panel with matched tumor-normal testing identified significantly more fusion genes (20.3% vs. 7.4%, p<0.001) compared to the conventional DNA-only test.
  • The study included 1046 patients registered between August 2023 and October 2024.
  • The dual DNA-RNA panel is promising in cancer management, with most studies relying on tumor-only DNA panels from single institutions.
  • In 2023, Japan introduced an insurance-covered cancer genomic profiling test, the GenMine TOP Cancer Genome Profiling System, a dual DNA-RNA panel with matched tumor-normal testing.
  • The researchers evaluated the utility of the dual DNA-RNA panel compared to a conventional DNA-only test (FoundationOne CDx) in managing sarcoma patients.
  • Kiichiro Ninomiya, Center for Comprehensive Genomic Medicine, led the research at Okayama University Graduate School of Medicine.
  • Additional authors include Eiji Nakata, Tatsunori Osone, Daisuke Ennishi, Shuta Tomida, Tomohiro Fujiwara, Toshiyuki Kunisada, Mashu Futagawa, Akira Hirasawa, Shinichi Toyooka, and Toshifumi Ozaki.

Statistics:

  • 1046 patients were registered between August 2023 and October 2024 for the study.
  • 20.3% vs. 7.4% (p<0.001) of fusion genes were identified by the dual DNA-RNA test compared to the conventional DNA-only test.
  • The dual DNA-RNA test identified significantly more fusion genes than the DNA-only test.

Sources:

  • "Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database." Cancer Science, 2025.
  • Cancer Weekly, "Researchers at Okayama University Graduate School of Medicine Report Findings in Cancer (Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database)", November 4, 2025; p 712.
  • Okayama University Graduate School of Medicine, "Kiichiro Ninomiya, Center for Comprehensive Genomic Medicine."
  • Wiley, "Cancer Science, 111 River St, Hoboken 07030-5774, NJ, USA."