ArticleEMBO molecular medicine2024
Mutation analysis in individual circulating tumor cells depicts intratumor heterogeneity in melanoma.
Article in EMBO molecular medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Circulating Tumor DNA as a Biomarker for Melanoma Prognosis and Therapy.American journal of clinical dermatology · 2026Review
- Applications of circulating tumor cells in esophageal cancer detection and treatment.Discover oncology · 2026Review
- Isolation and typing techniques for circulating tumor cells.Biomarker research · 2026Review
- Detection and prognostic role of circulating cancer-associated fibroblasts in the blood of melanoma patients.Frontiers in cell and developmental biology · 2026Article
- Circulating tumor cells as biomarkers in melanoma: techniques, challenges, and clinical applications.Frontiers in cell and developmental biology · 2026Review
- Circulating tumor cells: Blood-based detection, molecular biology, and clinical applications.Cancer cell · 2025Review
- Epithelial-to-mesenchymal transition (EMT) and cancer metastasis: the status quo of methods and experimental models 2025.Molecular cancer · 2025Review
- [Biomarkers in adjuvant and neoadjuvant treatment of melanoma].Dermatologie (Heidelberg, Germany) · 2025Review
- The value of chromosome 8 heteroploid tumor cells in the peripheral blood and pleural effusion in evaluating treatment efficacy and the prognosis of metastatic non-small cell lung cancer patients.Journal of thoracic disease · 2025Article
- Fostering the implementation of liquid biopsy in clinical practice: meeting report 2024 of the European Liquid Biopsy Society (ELBS).Journal of experimental & clinical cancer research : CR · 2025Article
- A model workflow for microfluidic enrichment and genetic analysis of circulating melanoma cells.Scientific reports · 2025Article
- Lessons (to be) learned from liquid biopsies: assessment of circulating cells and cell-free DNA in cancer and pregnancy-acquired microchimerism.Seminars in immunopathology · 2025Review
- A method for identifying neoantigens through isolation of circulating tumor cells using apheresis among patients with advanced-stage cancer.Frontiers in immunology · 2025Article
- Comprehensive liquid biopsy analysis for monitoring NSCLC patients under second-line osimertinib treatment.Frontiers in oncology · 2024Article
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Authors and funding
28 authors.
Funding
Abstract
Circulating tumor DNA (ctDNA) is the cornerstone of liquid biopsy diagnostics, revealing clinically relevant genomic aberrations from blood of cancer patients. Genomic analysis of single circulating tumor cells (CTCs) could provide additional insights into intra-patient heterogeneity, but it requires whole-genome amplification (WGA) of DNA, which might introduce bias. Here, we describe a novel approach based on mass spectrometry for mutation detection from individual CTCs not requiring WGA and complex bioinformatics pipelines. After establishment of our protocol on tumor cell line-derived single cells, it was validated on CTCs of 33 metastatic melanoma patients and the mutations were compared to those obtained from tumor tissue and ctDNA. Although concordance with tumor tissue was superior for ctDNA over CTC analysis, a larger number of mutations were found within CTCs compared to ctDNA (p = 0.039), including mutations in melanoma driver genes, or those associated with resistance to therapy or metastasis. Thus, our results demonstrate proof-of-principle data that CTC analysis can provide clinically relevant genomic information that is not redundant to tumor tissue or ctDNA analysis.
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