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Updated: Oct 2, 2025
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Mutational Landscape and Actionable Target Rates on Advanced Stage Refractory Cancer Patients: A Multicenter Chilean
Miguel Cordova-Delgado1,2, Mauricio P Pinto1, Carlos Regonesi3
1Department of Hematology and Oncology, Faculty of Medicine, Pontificia Universidad Católica de Chile, Santiago 8330032, Chile.
Abstract:
Major advances in sequencing technologies and targeted therapies have accelerated the incorporation of oncology into the era of precision medicine and "biomarker-driven" treatments. However, the impact of this approach on the everyday clinic has yet to be determined. Most precision oncology reports are based on developed countries and usually involve metastatic, hard-to-treat or incurable cancer patients. Moreover, in many cases race and ethnicity in these studies is commonly unreported and real-world evidence in this topic is scarce. Herein, we report data from a total of 202 Chilean advanced stage refractory cancer patients. Retrospectively, we collected patient data from NGS tests and IHC in order to determine the proportion of patients that would benefit from targeted treatments. Overall >20 tumor types were included in our cohort and 37% of patients (n = 74) displayed potentially actionable alterations, including on-label, off-label and immune checkpoint inhibitor recommendations. Our findings were in-line with previous reports such as the cancer genome atlas (TCGA). To our knowledge, this is the first report of its kind in Latin America delivering real-world evidence to estimate the percentage of refractory tumor patients that might benefit from precision oncology. Although this approach is still in its infancy in Chile, we strongly encourage the implementation of mutational tumor boards in our country in order to provide more therapeutic options for advanced stage refractory patients.
Insights
This study found 37% of advanced cancer patients in Chile have actionable genetic alterations for precision oncology treatments. This real-world evidence highlights the need for implementing precision medicine strategies in Latin America.
Area of Science:
- Oncology
- Genomics
- Precision Medicine
Background:
- Precision medicine and biomarker-driven treatments are advancing oncology.
- Real-world evidence on precision oncology in non-developed countries, particularly regarding race and ethnicity, is scarce.
- Most precision oncology studies focus on metastatic, hard-to-treat, or incurable cancers in developed nations.
Purpose of the Study:
- To determine the proportion of advanced stage refractory cancer patients in Chile who could benefit from targeted therapies.
- To provide the first real-world evidence from Latin America on the applicability of precision oncology in refractory tumors.
- To assess the prevalence of actionable molecular alterations in a diverse Chilean cancer cohort.
Main Methods:
- Retrospective collection of patient data from 202 Chilean advanced stage refractory cancer patients.
- Analysis of Next-Generation Sequencing (NGS) tests and Immunohistochemistry (IHC) results.
- Inclusion of over 20 different tumor types to capture a broad spectrum of cancers.
Main Results:
- 37% of patients (n = 74) exhibited potentially actionable molecular alterations.
- Identified alterations supported recommendations for on-label, off-label, and immune checkpoint inhibitor therapies.
- Findings align with large-scale genomic studies like The Cancer Genome Atlas (TCGA).
Conclusions:
- Precision oncology shows promise for advanced stage refractory cancer patients in Chile, with a significant proportion having actionable targets.
- The implementation of mutational tumor boards is strongly encouraged to expand therapeutic options for these patients.
- This study provides crucial real-world data for advancing precision oncology in Latin America.
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