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Updated: Jul 1, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Retrospective database study of druggable mutation detection among patients with non-small cell lung cancer in Japan
Yuya Yokochi1, Moemi Miura2, Masayuki Hamakawa2
1Medical Affairs Division, Novartis Pharma K.K, 23-1, Toranomon 1-chome, Minato-ku, Tokyo, 105-6333, Japan. yuya.yokochi@novartis.com.
Abstract:
Generally, non-small cell lung cancer (NSCLC) accounts for 90% of lung cancer cases in Japan. The detection of druggable mutations is necessary for selecting the appropriate systemic therapy for patients with NSCLC. This study explored the proportion, characteristics, and treatments of patients with druggable mutations detected following standard therapy using cancer gene panel (CGP) testing. Adult NSCLC cases who had not been previously confirmed to have druggable mutations before CGP testing were extracted from the national database. A total of 1,425 cases were included and analyzed using descriptive statistics. Among the patients with NSCLC who underwent CGP testing, 44.6% exhibited druggable mutations (n = 635; mean age, 63.9 ± 10.7 years; 439 men [69.1%]). The most common types of mutations among those with druggable mutations were EGFR and NTRK, whereas the most common cancer subtypes were lung adenocarcinoma and lung squamous cell carcinoma. The median number of days from primary treatment initiation to druggable mutation detection was 701. As the first treatment after the CGP testing, 23.0% of the patients received molecularly targeted agents. Our findings emphasize the clinical importance of reducing barriers that hinder upfront multigene testing for driver gene mutations in ensuring patients receive appropriate treatment.
Insights
Nearly half of non-small cell lung cancer (NSCLC) patients have actionable mutations detectable by cancer gene panel (CGP) testing. Early CGP testing is crucial for guiding targeted therapies in NSCLC patients.
Area of Science:
- Oncology
- Genetics
- Medical Diagnostics
Background:
- Non-small cell lung cancer (NSCLC) is the predominant lung cancer type in Japan.
- Identifying targetable mutations is essential for personalized systemic therapy in NSCLC.
- Standard therapy often precedes the detection of actionable mutations.
Purpose of the Study:
- To determine the prevalence and characteristics of actionable mutations in NSCLC patients.
- To analyze the treatments received by NSCLC patients after detecting actionable mutations via CGP testing.
- To highlight the importance of timely multigene testing for NSCLC treatment selection.
Main Methods:
- Retrospective analysis of adult NSCLC cases from a national database.
- Inclusion criteria: patients without prior confirmed druggable mutations before CGP testing.
- Descriptive statistics were used to analyze 1,425 cases.
Main Results:
- 44.6% of NSCLC patients (635/1,425) had detectable druggable mutations.
- EGFR and NTRK were the most frequent mutations; lung adenocarcinoma and squamous cell carcinoma were common subtypes.
- Median time from primary treatment to mutation detection was 701 days.
- 23.0% of patients received molecularly targeted agents post-CGP testing.
Conclusions:
- A significant proportion of NSCLC patients harbor targetable mutations.
- There are delays in detecting these mutations, impacting timely treatment.
- Reducing barriers to upfront multigene testing is vital for optimal NSCLC patient care.
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