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Updated: Aug 9, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
[Molecular diagnosis of solid tumors]
1Department of Pathology and Molecular Diagnostics, Aichi Cancer Center Hospital.
Abstract:
This review highlights three examples of novel targeted therapeutics for solid tumors that are currently approved in Japan: 1) Trastuzumab (Herceptin) for patients with metastatic breast cancer that demonstrates overexpression of HER2/neu; 2) Imatinib mesylate (Glivec) for patients with gastrointestinal tumors, of which tumor cells express c-Kit; and 3) Gefitini (Iressa) for patients with advanced non-small cell lung cancers, which response to gefitinib is recently suggested to be associated with EGFR mutation. In these molecular targeted therapies, diagnostic tools to verify the presence of an appropriate molecular target is crucial to the success, and thus the methods and its interpretation are discussed in this review.
Insights
This review covers three targeted cancer therapies approved in Japan: Trastuzumab for HER2-positive breast cancer, Imatinib for c-Kit-positive gastrointestinal tumors, and Gefitinib for non-small cell lung cancer linked to EGFR mutations. Diagnostic tools are crucial for successful molecular targeted therapy.
Area of Science:
- Oncology
- Pharmacology
- Molecular Diagnostics
Background:
- Targeted therapeutics represent a significant advancement in cancer treatment.
- Precision medicine relies on identifying specific molecular targets within tumors.
- The approval of novel targeted drugs necessitates robust diagnostic strategies.
Purpose of the Study:
- To review three approved molecular targeted therapies for solid tumors in Japan.
- To highlight the importance of diagnostic tools in the application of targeted therapies.
- To discuss the methods and interpretation of diagnostic tests for these therapies.
Main Methods:
- Review of approved targeted therapeutics in Japan.
- Analysis of diagnostic methods for specific molecular targets (HER2/neu, c-Kit, EGFR mutations).
- Discussion of the clinical significance of diagnostic test results.
Main Results:
- Trastuzumab (Herceptin) approved for HER2/neu-overexpressing metastatic breast cancer.
- Imatinib mesylate (Gleevec) approved for c-Kit-expressing gastrointestinal tumors.
- Gefitinib (Iressa) approved for advanced non-small cell lung cancer, with response linked to EGFR mutations.
Conclusions:
- Molecular targeted therapies offer new treatment options for solid tumors.
- Accurate diagnostic tools are essential for patient selection and treatment success.
- The interpretation of diagnostic tests is critical for effective personalized cancer care.

