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Nanopore-based cell-free DNA fragmentation and methylation profiles from the cerebral spinal fluid of patients with lung cancer brain metastases


Certain cancers, including non-small cell lung cancer (NSCLC), can spread to the brain and form metastases, which lead to a poor prognosis. Here, researchers investigated whether cell-free DNA (cfDNA) from the cerebrospinal fluid of individuals with NSCLC that had metastasised to the brain could be used as an indicator of this disease. cfDNA has distinctive epigenetic features that could be used as a biomarker of disease, but previously, only limited sensitivity could be achieved with cfDNA analysis due to the blood-brain barrier limiting the passage of circulating tumour DNA. To overcome this, the team extracted DNA from the cerebrospinal fluid, which has been found to contain DNA from metastatic brain tumours. Using Oxford Nanopore sequencing, distinct epigenetic patterns were revealed in samples from patients with NSCLC, which differed from control samples, demonstrating the potential of nanopore technology for non-invasive cancer detection and biomarker discovery.

‘Leveraging nanopore sequencing, we directly obtained 5mC and 5hmC molecular information from the same set of DNA molecules and our analysis showed distinct methylation or hydroxymethylation patterns between cancer and control’

Chen et al. 2025

Sample type: cell-free DNA from cerebrospinal fluid

Kit: Native Barcoding Kit

Authors: Tianqi Chen, Xiangqi Bai, Georgiana Burnside, Thy Trang Hoang Trinh, Melanie Hayden Gephart, Billy T. Lau, Hanlee P. Ji

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