ArticleCancer medicine2020
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients.
Article in Cancer medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 14 citations in OpenAlex.
- Blood-Based Cell-Free DNA in Ophthalmic Oncology.Translational vision science & technology · 2025Review
- How Have Massively Parallel Sequencing Technologies Furthered Our Understanding of Oncogenesis and Cancer Progression?Methods in molecular biology (Clifton, N.J.) · 2025Review
- Evaluation of Circulating Tumor DNA as a Liquid Biomarker in Uveal Melanoma.Investigative ophthalmology & visual science · 2024Article
- Leveraging the Fragment Length of Circulating Tumour DNA to Improve Molecular Profiling of Solid Tumour Malignancies with Next-Generation Sequencing: A Pathway to Advanced Non-invasive Diagnostics in Precision Oncology?Molecular diagnosis & therapy · 2021Review
- Review
- Retrospective Evaluation of Somatic Alterations in Cell-Free DNA from Blood in Retinoblastoma.Ophthalmology science · 2021Article
- Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients.Cancer medicine · 2020Article
- Cell-free DNA next-generation sequencing liquid biopsy as a new revolutionary approach for arteriovenous malformation.JVS-vascular science · 2020Article
Corrections and comments
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Authors and funding
22 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlthough the efficacy of molecularly target agents in vitro, their use in routine setting is limited mainly to the use of anti-HER2 and antiEGFR agents in vivo. Moreover, core biopsy of a single cancer site may not be representative of the whole expanding clones and cancer molecular profile at relapse may differ with respect to the primary tumor.
methodsWe assessed the status of a large panel of cancer driver genes by cell-free DNA (cfDNA) analysis in a cohort of 68 patients with 13 different solid tumors at disease progression. Whenever possible, a second cfDNA analysis was performed after a mean of 2.5 months, in order to confirm the identified clone(s) and to check the correlation with clinical evolution.
resultsThe approach was able to identify clones plausibly involved in the disease progression mechanism in about 65% of cases. A mean of 1.4 mutated genes (range 1-3) for each tumor was found. Point mutations in TP53, PIK3CA, and KRAS and copy number variations in FGFR3 were the gene alterations more commonly observed, with a rate of 48%, 20%, 16%, and 20%, respectively. Two-points-Next-Generation Sequencing (NGS) analysis demonstrated statistically significant correlation between allele frequency variation and clinical outcome (P = .026).
conclusionsIrrespective of the primary tumor mutational burden, few mutated genes are present at disease progression. Clinical outcome is consistent with variation of allele frequency of specific clones indicating that cfDNA two-point-NGS analysis of cancer driver genes could be an efficacy tool for precision oncology.
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