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Updated: May 31, 2025
Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
Detection of Circulating Tumor DNA in Liquid Biopsy: Current Techniques and Potential Applications in Melanoma
Clara Martínez-Vila1,2,3, Cristina Teixido4,5, Francisco Aya5,6
1Department of Medical Oncology, Althaia Xarxa Assistencial Universitària de Manresa, Dr. Joan Soler, 1-3, 08243 Manresa, Spain.
Abstract:
The treatment landscape for advanced melanoma has transformed significantly with the advent of BRAF and MEK inhibitors (BRAF/MEKi) targeting BRAFV600 mutations, as well as immune checkpoint inhibitors (ICI) like anti-PD-1 monotherapy or its combinations with anti-CTLA-4 or anti-LAG-3. Despite that, many patients still do not benefit from these treatments at all or develop resistance mechanisms. Therefore, prognostic and predictive biomarkers are needed to identify patients who should switch or escalate their treatment strategies or initiate an intensive follow-up. In melanoma, liquid biopsy has shown promising results, with a potential role in predicting relapse in resected high-risk patients or in disease monitoring during the treatment of advanced disease. Several components in peripheral blood have been analyzed, such as circulating tumor cells (CTCs), cell-free DNA (cfDNA), and circulant tumoral DNA (ctDNA), which have turned out to be particularly promising. To analyze ctDNA in blood, different techniques have proven to be useful, including digital droplet polymerase chain reaction (ddPCR) to detect specific mutations and, more recently, next-generation sequencing (NGS) techniques, which allow analyzing a broader repertoire of the mutation landscape of each patient. In this review, our goal is to update the current understanding of liquid biopsy, focusing on the use of ctDNA as a biological material in the daily clinical management of melanoma patients, in particular those with advanced disease treated with ICI.
Insights
Liquid biopsy using circulating tumor DNA (ctDNA) shows promise for managing advanced melanoma. This approach aids in predicting treatment response and monitoring disease progression in patients receiving immune checkpoint inhibitors.
Area of Science:
- Oncology
- Molecular Diagnostics
- Immunotherapy
Background:
- Advanced melanoma treatment has evolved with BRAF/MEK inhibitors and immune checkpoint inhibitors (ICI).
- Many patients exhibit resistance or lack benefit from current therapies, necessitating better biomarkers.
- Liquid biopsy offers a non-invasive method for monitoring melanoma and predicting outcomes.
Purpose of the Study:
- To review the current applications of liquid biopsy, specifically circulating tumor DNA (ctDNA), in advanced melanoma management.
- To highlight the role of ctDNA in clinical decision-making for patients treated with immune checkpoint inhibitors (ICI).
Main Methods:
- Analysis of circulating tumor DNA (ctDNA) in peripheral blood.
- Utilizing techniques such as digital droplet polymerase chain reaction (ddPCR) and next-generation sequencing (NGS).
- Review of existing literature on liquid biopsy in melanoma patient management.
Main Results:
- ctDNA analysis in liquid biopsies shows potential for predicting relapse in high-risk resected melanoma.
- ctDNA is a promising biomarker for monitoring disease during advanced melanoma treatment.
- NGS techniques offer a broader analysis of the mutation landscape compared to ddPCR.
Conclusions:
- Liquid biopsy, particularly ctDNA analysis, is a valuable tool for the clinical management of advanced melanoma patients.
- ctDNA can guide treatment strategies and follow-up intensity for patients receiving immune checkpoint inhibitors (ICI).
- Further integration of ctDNA analysis into routine clinical practice is warranted.
