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Updated: Aug 25, 2025
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Clinical decisions by the molecular tumor board on comprehensive genomic profiling tests in Japan: A retrospective
Hidekazu Shirota1, Keigo Komine1, Masanobu Takahashi1
1Department of Clinical Oncology, Tohoku University Hospital, Sendai, Japan.
Background:
A paradigm shift has occurred in cancer chemotherapy from tumor-specific treatment with cytotoxic agents to personalized medicine with molecular-targeted drugs. Thus, it is essential to identify genomic alterations and molecular features to recommend effective targeted molecular medicines regardless of the tumor site. Nevertheless, it takes considerable expertise to identify treatment targets from primary-sequencing data in order to provide drug recommendations. The Molecular Tumor Board (MTB) denotes a platform that integrates clinical and molecular features for clinical decisions.
Methods:
This study retrospectively analyses all the cases of discussion and decision at the MTB in Tohoku University Hospital and summarizes genetic alterations and treatment recommendations.
Results:
The MTB discussed 1003 comprehensive genomic profiling (CGP) tests conducted in patients with solid cancer, and the resulting rate of assessing treatment recommendations was approximately 19%. Among hundreds of genes in the CGP test, only 30 genetic alterations or biomarkers were used to make treatment recommendations. The leading biomarkers that led to treatment recommendations were tumor mutational burden-high (TMB-H) (n = 32), ERBB2 amplification (n = 24), BRAF V600E (n = 16), and BRCA1/2 alterations (n = 32). Thyroid cancer accounted for most cancer cases for which treatment recommendation was provided (81.3%), followed by non-small cell lung cancer (42.4%) and urologic cancer (31.3%). The number of tests performed for gastrointestinal cancers was high (n = 359); however, the treatment recommendations for the same were below average (13%).
Conclusion:
The results of this study may be used to simplify treatment recommendations from the CGP reports and help select patients for testing, thereby increasing the accuracy of personalized medicine.
Insights
Personalized cancer medicine relies on identifying genomic alterations. A Molecular Tumor Board (MTB) analyzed 1003 comprehensive genomic profiling tests, finding specific biomarkers like TMB-H and ERBB2 amplification guided treatment recommendations.
Area of Science:
- Oncology
- Genomics
- Personalized Medicine
Background:
- Cancer treatment is shifting towards personalized medicine with molecular-targeted drugs.
- Identifying genomic alterations is crucial for effective targeted therapies.
- Molecular Tumor Boards (MTBs) integrate clinical and molecular data for treatment decisions.
Purpose of the Study:
- To retrospectively analyze cases discussed at the MTB in Tohoku University Hospital.
- To summarize genetic alterations and treatment recommendations from MTB discussions.
- To identify key biomarkers driving treatment recommendations in solid cancers.
Main Methods:
- Retrospective analysis of 1003 comprehensive genomic profiling (CGP) tests discussed at an MTB.
- Identification of genetic alterations and biomarkers used for treatment recommendations.
- Categorization of cancer types and assessment of recommendation rates.
Main Results:
- Approximately 19% of CGP tests led to treatment recommendations.
- Tumor mutational burden-high (TMB-H) and ERBB2 amplification were leading biomarkers.
- Thyroid, non-small cell lung, and urologic cancers had high recommendation rates, while gastrointestinal cancers had lower rates despite high testing volume.
Conclusions:
- Simplifying CGP report interpretation can improve personalized medicine accuracy.
- Identifying key biomarkers aids in selecting patients for targeted therapies.
- MTB analysis provides valuable insights into genomic alterations and treatment strategies.
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