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Clinical and Diagnostic Utility of Genomic Profiling for Digestive Cancers: Real-World Evidence from Japan
Marin Ishikawa1, Kohei Nakamura1, Ryutaro Kawano1
1Genomics Unit, Keio Cancer Center, Keio University School of Medicine, Integrated Medical Research Building 3-S5, 35, Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan.
Cancers
|April 27, 2024
Summary
Comprehensive genomic profiling (CGP) demonstrates significant clinical utility in diagnosing digestive cancers. This study found CGP effectively identifies actionable genomic alterations, aiding precise diagnosis and treatment strategies in Japanese patients.
Area of Science:
- Oncology
- Genomics
- Molecular Diagnostics
Background:
- The clinical utility of comprehensive genomic profiling (CGP) within Japan's healthcare system for digestive cancers is not well-established.
- Digestive cancers represent a significant global health burden, necessitating advanced diagnostic tools.
Purpose of the Study:
- To evaluate the diagnostic and clinical usefulness of CGP in a large cohort of Japanese patients with digestive cancers.
- To analyze the detection rates of actionable genomic alterations and their associated signaling pathways.
Main Methods:
- A large-scale study involving 1587 patients, with 547 diagnosed with digestive cancer, who underwent the FoundationOne® CDx assay.
- Development of a scoring system to identify potentially actionable and actionable genomic alterations, including those relevant for companion diagnosis (CDx).
- Analysis of detection rates and signaling pathways for genomic alterations across various digestive cancer types.
Main Results:
- CGP detected potentially actionable genomic alterations in 99.5% of digestive cancer patients.
- Actionable genomic alterations and alterations equivalent to CDx were identified in 62.5% and 11.5% of patients, respectively.
- Frequent alterations included APC in colorectal, KRAS in pancreatic, and CDKN2A in biliary cancers; most were adenocarcinomas.
Conclusions:
- Comprehensive genomic profiling (CGP) possesses significant clinical and diagnostic utility for digestive cancers in Japan.
- The study proposes a classification flowchart for digestive adenocarcinomas to aid precise diagnosis.
- CGP facilitates the identification of specific genomic alterations, supporting personalized treatment approaches.
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