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Related Experiment Video

Updated: May 29, 2026

Ultra-Fast Amplicon-Based Next-Generation Sequencing in Non-Squamous Non-Small Cell Lung Cancer
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Differences Among Genomic Profiling Tests for Bone and Soft-Tissue Sarcomas in a Universal Health Insurance System.

Satoshi Kamio1,2, Masachika Ikegami1, Rina Kitada1

  • 1Division of Cellular Signaling, National Cancer Center Research Institute, Tokyo, Japan.

The Journal of Bone and Joint Surgery. American Volume
|May 27, 2026
PubMed
Summary

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This summary is machine-generated.

A DNA+RNA comprehensive genomic profiling panel detected more tyrosine kinase (TK) fusions in sarcomas than DNA-only panels. This dual-sequencing approach identified actionable NTRK fusions responsive to targeted therapies.

Area of Science:

  • Oncology
  • Genomics
  • Molecular Biology

Background:

  • Accurate gene fusion identification is crucial for precision oncology in sarcomas.
  • Specific gene fusions are actionable targets for tyrosine kinase (TK) inhibitors.
  • This study evaluates three comprehensive genomic profiling (CGP) panels used in Japan.

Purpose of the Study:

  • To descriptively overview the real-world use of three CGP panels in Japan.
  • To compare the detection rates of actionable TK fusions across different CGP panels.
  • To functionally validate identified NTRK fusions.

Main Methods:

  • Examined 2,633 sarcoma cases from the C-CAT database.
  • Identified potentially actionable alterations using the Cancer Knowledge Database (CKDB).

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  • Compared detection rates of TK fusions (FGFR, NTRK, ALK, RET, ROS1, BRAF) across GenMineTOP (DNA+RNA), FoundationOne CDx (DNA), and NCC Oncopanel (DNA).

    • Main Results:

    • Potentially actionable alterations were found in 21.5% of patients.
    • The DNA+RNA panel (GenMineTOP) detected TK fusions at a higher rate (3.1%) compared to DNA-only panels (1.4% and 0.6%).
    • GenMineTOP identified rare NTRK fusions, which showed oncogenic potential and sensitivity to TK inhibitors in functional assays.

    Conclusions:

    • The DNA+RNA-based panel demonstrated a higher detection rate for TK fusions in sarcomas.
    • While the study provides valuable real-world data, sensitivity and specificity could not be determined due to different patient groups.
    • Further studies comparing different test types on identical tumor specimens are needed to confirm the benefits of dual-sequencing approaches.