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Circulating cell-free DNA (cfDNA) analysis has the potential to revolutionise the care of patients with cancer and is already moving towards standard of care in some adult malignancies. Evidence for the utility of cfDNA analysis in paediatric cancer patients is also accumulating. In this review we discuss the limitations of blood-based assays in patients with brain tumours and describe the evidence supporting cerebrospinal fluid (CSF) cfDNA analysis. We make recommendations for CSF cfDNA processing to aid the standardisation and technical validation of future assays. We discuss the considerations for interpretation of cfDNA analysis and highlight promising future directions. Overall, cfDNA profiling shows great potential as an adjunct to the analysis of biopsy tissue in paediatric cancer patients, with the potential to provide a genetic molecular profile of the tumour when tissue biopsy is not feasible. However, to fully realise the potential of cfDNA analysis for children with brain tumours larger prospective studies incorporating serial CSF sampling are required.
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http://dx.doi.org/10.3389/fped.2022.957944 | DOI Listing |
Cell Mol Biol (Noisy-le-grand)
September 2025
Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud. Universidad de Guadalajara, Jalisco, México.
The objective of this study was to evaluate the concentration and integrity index of circulating cell-free DNA (ccf-DNA) as biomarkers for the detection and monitoring of minimal residual disease (MRD) in pediatric patients with B-cell acute lymphoblastic leukemia (B-ALL). Comparison with a validated methodology for the quantification of monoclonal rearrangements of the IGH gene was made. Peripheral blood and bone marrow samples were collected from 10 pediatric patients with B-ALL at diagnosis, remission, and maintenance phases.
View Article and Find Full Text PDFNAR Genom Bioinform
September 2025
BGI Research, Shenzhen 518083, China.
Next-generation sequencing has greatly advanced genomics, enabling large-scale studies of population genetics and complex traits. Genomic DNA (gDNA) from white blood cells has traditionally been the main data source, but cell-free DNA (cfDNA), found in bodily fluids as fragmented DNA, is increasingly recognized as a valuable biomarker in clinical and genetic studies. However, a direct comparison between cfDNA and gDNA has not been fully explored.
View Article and Find Full Text PDFTransl Oncol
September 2025
Division of Genome Biology, National Cancer Center Research Institute, Tokyo, Japan; Department of Clinical Genomics, National Cancer Center Research Institute, Tokyo, Japan. Electronic address:
Liquid biopsies, particularly those involving circulating tumor DNA (ctDNA) from patient blood, have emerged as crucial and minimally invasive adjuncts to standard tissue-based testing. ctDNA testing enables the identification of actionable mutations for targeted therapy and can be routinely used when tissue samples are unavailable for genotyping. Compared to tissue-based testing, ctDNA testing has the advantages of capturing spatial or temporal genomic heterogeneity and facilitating repeated assessments.
View Article and Find Full Text PDFESMO Open
September 2025
Department of Medical Oncology, Kanazawa University Hospital, Kanazawa, Japan. Electronic address:
Background: Resistance to alectinib, the standard first-line therapy for anaplastic lymphoma kinase (ALK)-rearranged non-small-cell lung cancer (NSCLC), remains a major clinical challenge. This study aimed to investigate resistance mechanisms using next-generation sequencing (NGS) of plasma cell-free DNA (cfDNA).
Materials And Methods: Plasma samples from 67 patients in the alectinib group of the J-ALEX study were collected at baseline, on day 57, and at treatment discontinuation.
J Cancer Res Clin Oncol
September 2025
Department of Forensic Sciences, School of Biological Sciences, University of Cape Coast, Cape Coast, Ghana.
Aim: Early cervical cancer diagnosis is a global challenge that needs to be addressed by the discovery of less invasive diagnostic and prognostic approaches. Circulating miRNAs are stable in plasma and their diagnostic potentials have been elucidated in some cancers. Therefore, in this cross-sectional study, we determined the patterns of expression of 7 selected circulating microRNAs that differ between patients with cervical cancer receiving therapy, patients with cervical not on therapy and healthy females.
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