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Updated: Jul 23, 2025
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
First-Line Genomic Profiling in Previously Untreated Advanced Solid Tumors for Identification of Targeted Therapy
Junichi Matsubara1, Kumi Mukai1, Tomohiro Kondo1
1Department of Clinical Oncology, Kyoto University Hospital, Kyoto, Japan.
Importance:
Precision oncology using comprehensive genomic profiling (CGP) by next-generation sequencing is aimed at companion diagnosis and genomic profiling. The clinical utility of CGP before the standard of care (SOC) is still not resolved, and more evidence is needed.
Objective:
To investigate the clinical utility of next-generation CGP (FoundationOne CDx [F1CDx]) in patients with previously untreated metastatic or recurrent solid tumors.
Design, Setting, And Participants:
This multicenter, prospective, observational cohort study enrolled patients with previously untreated advanced solid tumors between May 18, 2021, and February 16, 2022, with follow-up through August 16, 2022. The study was conducted at 6 hospitals in Japan. Eligible patients were aged 20 years or older and had Eastern Cooperative Oncology Group performance status of 0 to 1 with previously untreated metastatic or recurrent cancers in the gastrointestinal or biliary tract; pancreas, lung, breast, uterus, or ovary; and malignant melanoma.
Exposure:
Comprehensive genomic profiling testing before SOC for advanced solid tumors.
Main Outcomes And Measures:
Proportion of patients with actionable or druggable genomic alterations and molecular-based recommended therapy (MBRT).
Results:
A total of 183 patients met the inclusion criteria and 180 patients (92 men [51.1%]) with a median age of 64 years (range, 23-88 years) subsequently underwent CGP (lung [n = 28], colon/small intestine [n = 27], pancreas [n = 27], breast [n = 25], biliary tract [n = 20], gastric [n = 19], uterus [n = 12], esophagus [n = 10], ovary [n = 6], and skin melanoma [n = 6]). Data from 172 patients were available for end point analyses. Actionable alterations were found in 172 patients (100.0%; 95% CI, 97.9%-100.0%) and druggable alternations were identified in 109 patients (63.4%; 95% CI, 55.7%-70.6%). The molecular tumor board identified MBRT for 105 patients (61.0%; 95% CI, 53.3%-68.4%). Genomic alterations included in the companion diagnostics list of the CGP test were found in 49 patients (28.5%; 95% CI, 21.9%-35.9%) in a tumor-agnostic setting. After a median follow-up of 7.9 months (range, 0.5-13.2 months), 34 patients (19.8%; 95% CI, 14.1%-26.5%) received MBRT.
Conclusions And Relevance:
The findings of this study suggest that CGP testing before SOC for patients with advanced solid tumors may be clinically beneficial to guide the subsequent anticancer therapies, including molecularly matched treatments.
Insights
Comprehensive genomic profiling (CGP) before standard of care treatment identified actionable alterations in 100% of patients with advanced solid tumors. This precision oncology approach may guide subsequent molecularly matched therapies, demonstrating clinical utility.
Area of Science:
- Oncology
- Genomics
- Precision Medicine
Background:
- Precision oncology utilizes comprehensive genomic profiling (CGP) for companion diagnosis and genomic characterization.
- The clinical utility of CGP prior to standard of care (SOC) in advanced solid tumors requires further evidence.
Purpose of the Study:
- To investigate the clinical utility of next-generation CGP (FoundationOne CDx) in treatment-naïve patients with metastatic or recurrent solid tumors.
- To assess the proportion of patients with actionable or druggable genomic alterations and the identification of molecular-based recommended therapy (MBRT).
Main Methods:
- A multicenter, prospective, observational cohort study involving 180 patients with previously untreated advanced solid tumors across 6 Japanese hospitals.
- Patients underwent CGP testing before SOC, with outcomes analyzed for actionable/druggable alterations and MBRT.
- Follow-up was conducted to assess treatment decisions based on CGP results.
Main Results:
- Actionable genomic alterations were identified in 100% of patients (n=172).
- Druggable alterations were found in 63.4% of patients, and MBRT was recommended for 61.0%.
- Of the 172 patients analyzed, 19.8% received MBRT after a median follow-up of 7.9 months.
Conclusions:
- CGP testing before SOC in advanced solid tumors identified actionable alterations in all patients.
- This approach may offer clinical benefit by guiding subsequent anticancer therapies, including molecularly matched treatments.
- Further evidence supports the utility of CGP in precision oncology for treatment-naïve advanced solid tumors.
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