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Clinical Application of In-House Comprehensive Genomic Profiling for Thoracic Cancer: Insights From a Japanese
Hatsuyo Takaoka1, Hideki Terai1,2, Kohei Nakamura3
1Division of Pulmonary Medicine, Department of Medicine, Keio University, School of Medicine, Tokyo, Japan.
Cancer Science
|August 4, 2025
Summary
Rapid-Neo comprehensive genomic profiling accurately identifies driver alterations in thoracic cancers, complementing companion diagnostics and guiding targeted therapy and immunotherapy. This platform enhances clinical decision-making by revealing actionable genomic markers and predicting treatment response.
Area of Science:
- Oncology
- Genomics
- Molecular Diagnostics
Background:
- Comprehensive genomic profiling (CGP) is crucial for optimizing targeted therapy and immunotherapy in thoracic malignancies.
- In-house sequencing platforms require evaluation for clinical utility and diagnostic complementarity.
- Conventional companion diagnostics (CDx) may have limitations in identifying all actionable genomic alterations.
Purpose of the Study:
- To evaluate the clinical utility and diagnostic complementarity of the Rapid-Neo in-house sequencing platform for thoracic malignancies.
- To assess the concordance of Rapid-Neo with existing companion diagnostics (CDx).
- To investigate the association of genomic markers (TMB, MSI) with clinical outcomes in patients receiving targeted therapy and immunotherapy.
Main Methods:
- Retrospective analysis of 110 patients with thoracic malignancies who underwent Rapid-Neo testing.
- Assessment of baseline characteristics, sequencing results, and concordance with CDx.
- Evaluation of clinical outcomes, including progression-free survival (PFS), in relation to genomic markers.
Main Results:
- Rapid-Neo identified at least one genomic alteration in 99.1% of cases and driver alterations in 66.0% of lung cancer cases.
- High concordance (96.8%) was observed between Rapid-Neo and CDx, with Rapid-Neo identifying additional driver alterations.
- High tumor mutation burden (TMB-high) was associated with shorter PFS in EGFR-mutant lung adenocarcinoma patients receiving EGFR-TKI therapy.
- TMB-high or microsatellite instability-high (MSI-high) status correlated with prolonged PFS in patients receiving immune checkpoint inhibitors (ICIs).
Conclusions:
- Rapid-Neo demonstrates high sensitivity and concordance with CDx, effectively identifying actionable driver alterations missed by conventional tests.
- Genomic markers identified by Rapid-Neo, such as TMB and MSI status, show predictive value for targeted therapy and immunotherapy response.
- The integration of Rapid-Neo into routine clinical decision-making is supported for optimizing treatment strategies in thoracic malignancies.
