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Updated: Feb 5, 2026
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Moving From Mutation to Actionability
Ilaria Colombo1, Katherine C Kurnit1, Shannon N Westin1
1From the Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada; Department of Gynecologic Oncology and Reproductive Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX; University of Toronto, Department of Medicine, Toronto, ON, Canada.
Abstract:
The diffusion of high-throughput next-generation sequencing technologies has sustained massive parallel sequencing of tumor tissue providing a deep insight into tumor biology and advancement of personalized medicine. A substantial number of targeted agents have been investigated in gynecologic cancer and some have received U.S. Food and Drug Administration approval, like PARP inhibitors in ovarian cancer, bevacizumab in ovarian and cervical cancers, and pembrolizumab in microsatellite-unstable or mismatch repair-deficient endometrial cancer. To improve effectiveness of targeted therapy, identification of predictive biomarkers able to guide the selection of the correct drug for the correct patient is crucial. Different limitations must be addressed to favor a more rapid implementation of a genotyping approach in treatment selection, such as the possibility to easily assess tumor heterogeneity and clonal evolution along the disease trajectory and the need for innovative trial designs like adaptive or basket trials incorporating molecular features as selection criteria. A deep dive into the genomic features of exceptional responders may also favor better understanding of tumor biology, mechanism of action of a specific target agent, and identification or predictive biomarkers for subsequent tailored studies.
Insights
Next-generation sequencing advances tumor biology insights and personalized medicine in gynecologic cancers. Identifying predictive biomarkers is key to optimizing targeted therapies and improving patient outcomes.
Area of Science:
- Oncology
- Genomics
- Personalized Medicine
Background:
- High-throughput next-generation sequencing (NGS) provides deep insights into tumor biology.
- Targeted therapies and FDA-approved agents (e.g., PARP inhibitors, bevacizumab, pembrolizumab) are increasingly used in gynecologic cancers.
- Personalized medicine relies on identifying predictive biomarkers for targeted treatment selection.
Purpose of the Study:
- To highlight the importance of predictive biomarkers for enhancing targeted therapy effectiveness in gynecologic cancers.
- To discuss challenges and propose solutions for integrating genomic profiling into clinical treatment decisions.
- To explore the potential of studying exceptional responders to uncover novel biomarkers and therapeutic strategies.
Main Methods:
- Review of current applications of next-generation sequencing in gynecologic oncology.
- Analysis of approved targeted agents and their predictive biomarkers.
- Discussion of limitations in current genotyping approaches, including tumor heterogeneity and clonal evolution.
- Exploration of innovative clinical trial designs (e.g., adaptive, basket trials).
Main Results:
- NGS enables comprehensive tumor profiling, aiding personalized medicine.
- Several targeted agents are approved for specific gynecologic cancer subtypes based on molecular characteristics.
- Challenges remain in assessing tumor heterogeneity and implementing routine genotyping.
- Studying exceptional responders can yield valuable insights into tumor biology and biomarker discovery.
Conclusions:
- Predictive biomarker identification is crucial for optimizing targeted therapy in gynecologic cancers.
- Addressing challenges in tumor heterogeneity assessment and trial design is necessary for wider clinical adoption of genomic approaches.
- Investigating exceptional responders holds promise for advancing personalized oncology and identifying novel therapeutic targets.
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