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Updated: Feb 17, 2026
Micromanipulation of Circulating Tumor Cells for Downstream Molecular Analysis and Metastatic Potential Assessment
Published on: May 14, 2019
Circulating tumour DNA: analytical aspects and clinical applications for metastatic melanoma patients
Guillaume Herbreteau1, Audrey Vallée1, Anne-Chantal Knol2
1Laboratoire de biochimie, Plateforme de génétique moléculaire des cancers, CHU de Nantes, Nantes, France, Centre de recherche en cancérologie et immunologie, Inserm U 1232, Nantes, France.
Abstract:
The management of metastatic melanoma has evolved since the onset of treatments with BRAF inhibitors. In order to predict which patients are likely to respond to these treatments, the therapeutic strategy is now conditioned by the search for the activating mutations of the BRAF gene. Tumor genotyping is routinely performed from DNA extracted from tissue or cellular specimens from the primary tumor, metastases, or neoplastic effusions. Due to their invasiveness, these specimens are rarely repeated during the management. In addition, the analysis of the tumor material requires a pretreatment of the sample (formalin fixation, paraffin inclusion, preparation of tissue sections) and may take up to several weeks, making emergency treatment with BRAF inhibitors impossible. Circulating tumor DNA (ctDNA), released by cancer cells in the blood stream, appears as an alternative to tissue sampling. The pre-analytical conditions are now well defined, and several technological approaches can be used to demonstrate the desired molecular alterations. ctDNA is less affected by tumor heterogeneity, can be collected in a minimally invasive manner and analyzed rapidly. Furthermore, ctDNA can be repeatedly analyzed during follow-up, which makes it possible to envisage its use as a specific tumor marker, in order to monitor the response to the treatment and to detect treatment failure.
Insights
Circulating tumor DNA (ctDNA) offers a minimally invasive alternative for BRAF mutation testing in metastatic melanoma. This approach enables rapid analysis and repeated monitoring, overcoming limitations of traditional tissue biopsies.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Metastatic melanoma management now relies on BRAF inhibitor treatments.
- Predicting patient response necessitates identifying BRAF gene mutations.
- Traditional tumor genotyping from tissue biopsies is invasive and time-consuming.
Purpose of the Study:
- To evaluate circulating tumor DNA (ctDNA) as a viable alternative to tissue biopsies for BRAF mutation analysis in metastatic melanoma.
- To highlight the advantages of ctDNA in terms of speed, invasiveness, and monitoring capabilities.
Main Methods:
- Review of established protocols for ctDNA analysis.
- Comparison of ctDNA characteristics with traditional tumor tissue analysis.
- Discussion of ctDNA's potential in clinical decision-making.
Main Results:
- ctDNA analysis is a rapid and minimally invasive method for detecting BRAF mutations.
- ctDNA is less susceptible to tumor heterogeneity compared to tissue samples.
- Repeated ctDNA analysis allows for effective treatment response monitoring and failure detection.
Conclusions:
- ctDNA represents a significant advancement in the management of metastatic melanoma.
- It facilitates timely initiation of BRAF inhibitor therapy.
- ctDNA holds promise as a tumor marker for ongoing patient management and treatment evaluation.
