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Published on: September 20, 2016
Plasma-Based Genotyping in Advanced Solid Tumors: A Comprehensive Review
Maisam Makarem1, Miguel García-Pardo1, Natasha B Leighl1
1Princess Margaret Cancer Center, Department of Medical Oncology, Toronto, ON M5G 2C1, Canada.
Abstract:
Molecular genotyping for advanced solid malignancies has transformed the clinical management of patients with metastatic disease. Treatment decisions in a growing number of tumors require knowledge of molecularly driven alterations in order to select optimal targeted therapy. Although genomic testing of tumor tissue is the gold standard for identifying targetable genomic alterations, biopsy samples are often limited or difficult to access. This has paved the way for the development of plasma-based approaches for genomic profiling. Recent advances in the detection of plasma-circulating tumor DNA (ctDNA) have enabled the integration of plasma-based molecular profiling into clinical practice as an alternative or complementary tool for genomic testing in the setting of advanced cancer, to facilitate the identification of driver mutations to guide initial treatment and diagnose resistance. Several guidelines now recommend the use of plasma where tumor tissue is limited to identify a targetable genomic alteration. Current plasma-based assays can evaluate multiple genes in comprehensive panels, and their application in advanced disease will be increasingly incorporated into standard practice. This review focuses on current and future applications of plasma ctDNA-based assays in advanced solid malignancies, while highlighting some limitations in implementing this technology into clinical practice.
Insights
Liquid biopsies using circulating tumor DNA (ctDNA) offer a powerful alternative for molecular genotyping in advanced cancers. This approach aids in selecting targeted therapies and managing treatment resistance when tissue biopsies are limited.
Area of Science:
- Oncology
- Molecular Diagnostics
- Genomics
Background:
- Molecular genotyping is crucial for targeted therapy selection in advanced solid malignancies.
- Tumor tissue biopsies, the gold standard, are often limited or difficult to access.
- This limitation necessitates alternative methods for genomic profiling.
Purpose of the Study:
- To review the current and future applications of plasma ctDNA-based assays in advanced solid malignancies.
- To highlight the role of ctDNA in guiding targeted therapy and diagnosing resistance.
- To discuss the limitations of implementing plasma-based genomic testing in clinical practice.
Main Methods:
- Review of recent advances in plasma-based circulating tumor DNA (ctDNA) detection.
- Analysis of ctDNA assays for comprehensive genomic profiling in advanced cancers.
- Examination of clinical guidelines recommending plasma-based testing.
Main Results:
- Plasma-based ctDNA assays are increasingly integrated into clinical practice as an alternative or complementary tool.
- These assays facilitate the identification of driver mutations for initial treatment selection.
- ctDNA analysis aids in diagnosing treatment resistance in advanced cancer patients.
Conclusions:
- Plasma ctDNA assays represent a significant advancement in molecular profiling for advanced solid tumors.
- Guidelines now support plasma testing when tumor tissue is insufficient.
- Further implementation of ctDNA-based assays in standard practice is anticipated, despite existing limitations.
