ArticleMolecular oncology2019
Locus-specific concordance of genomic alterations between tissue and plasma circulating tumor DNA in metastatic melanoma.
Article in Molecular oncology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
35 citing papers in PubMed, 47 citations in OpenAlex.
- Blood circulating C228T TERT gene promoter mutation is an independent factor for the prognosis of HBV-related hepatocellular carcinoma.BMC cancer · 2026Article
- A set cover algorithm identifies minimal circulating tumour DNA sequencing targets for colorectal cancer detection.Scientific reports · 2025Article
- Detection of Circulating Tumor DNA in Liquid Biopsy: Current Techniques and Potential Applications in Melanoma.International journal of molecular sciences · 2025Review
- Circulating tumor DNA methylation detection as biomarker and its application in tumor liquid biopsy: advances and challenges.MedComm · 2024Review
- Mutation analysis in individual circulating tumor cells depicts intratumor heterogeneity in melanoma.EMBO molecular medicine · 2024Article
- A multiparameter liquid biopsy approach allows to track melanoma dynamics and identify early treatment resistance.NPJ precision oncology · 2024Article
- Detection of metastases using circulating tumour DNA in uveal melanoma.Journal of cancer research and clinical oncology · 2023Article
- Identification of TP53 mutations in circulating tumour DNA in high grade serous ovarian carcinoma using next generation sequencing technologies.Scientific reports · 2023Article
- Detectable ctDNA at the time of treatment cessation of ipilimumab and nivolumab for toxicity predicts disease progression in advanced melanoma patients.Frontiers in oncology · 2023Article
- Article
- Novel Markers for Liquid Biopsies in Cancer Management: Circulating Platelets and Extracellular Vesicles.Molecular cancer therapeutics · 2022Review
- The Use of ctDNA forCancers · 2022Article
- Detection of clinical progression through plasma ctDNA in metastatic melanoma patients: a comparison to radiological progression.British journal of cancer · 2022Article
- Anchored Multiplex PCR Custom Melanoma Next Generation Sequencing Panel for Analysis of Circulating Tumor DNA.Frontiers in oncology · 2022Article
- Article
- Human TERT promoter mutations as a prognostic biomarker in glioma.Journal of cancer research and clinical oncology · 2021Review
- Advances in Detecting Low Prevalence SomaticFrontiers in endocrinology · 2021Article
- Isolation and Quantification of Plasma Circulating Tumor DNA from Melanoma Patients.Methods in molecular biology (Clifton, N.J.) · 2021Article
- Prolonged response to treatment based on cell-free DNA analysis and molecular profiling in three patients with metastatic cancer: a case series.Therapeutic advances in medical oncology · 2021Article
- The Prognostic Impact of Circulating Tumour DNA in Melanoma Patients Treated with Systemic Therapies-BeyondCancers · 2020Article
Corrections and comments
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Authors and funding
15 authors at 7 institutions in 1 country.
Funding
Abstract
Circulating tumor DNA (ctDNA) may serve as a surrogate to tissue biopsy for noninvasive identification of mutations across multiple genetic loci and for disease monitoring in melanoma. In this study, we compared the mutation profiles of tumor biopsies and plasma ctDNA from metastatic melanoma patients using custom sequencing panels targeting 30 melanoma-associated genes. Somatic mutations were identified in 20 of 24 melanoma biopsies, and 16 of 20 (70%) matched-patient plasmas had detectable ctDNA. In a subgroup of seven patients for whom matching tumor tissue and plasma were sequenced, 80% of the mutations found in tumor tissue were also detected in ctDNA. However, TERT promoter mutations were only detected by ddPCR, and promoter mutations were consistently found at lower concentrations than other driver mutations in longitudinal samples. In vitro experiments revealed that mutations in promoter regions of TERT and DPH3 are underrepresented in ctDNA. While the results underscore the utility of using ctDNA as an alternative to tissue biopsy for genetic profiling and surveillance of the disease, our study highlights the underrepresentation of promoter mutations in ctDNA and its potential impact on quantitative liquid biopsy applications.
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