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Tumors constantly shed cancer cells that are considered the mediators of metastasis via the blood stream. Analysis of circulating cells and circulating cell-free DNA (cfDNA) in liquid biopsies, mostly taken from peripheral blood, have emerged as powerful biomarkers in oncology, as they enable the detection of genomic aberrations. Similarly, liquid biopsies taken from pregnant women serve as prenatal screening test for an abnormal number of chromosomes in the fetus, e.g., via the analysis of microchimeric fetal cells and cfDNA circulating in maternal blood. Liquid biopsies are minimally invasive and, consequently, associated with reduced risks for the patients. However, different challenges arise in oncology and pregnancy-acquired liquid biopsies with regard to the analyte concentration and biological (background) noise among other factors. In this review, we highlight the unique biological properties of circulating tumor cells (CTC), summarize the various techniques that have been developed for the enrichment, detection and analysis of CTCs as well as for analysis of genetic and epigenetic aberrations in cfDNA and highlight the range of possible clinical applications. Lastly, the potential, but also the challenges of liquid biopsies in oncology as well as their translational value for the analysis of pregnancy-acquired microchimerism are discussed.
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http://dx.doi.org/10.1007/s00281-025-01042-z | DOI Listing |
Cell Rep Methods
July 2025
Hubei Key Laboratory of Agricultural Bioinformatics, College of Informatics, Huazhong Agricultural University, Wuhan 430070, P.R. China; Key Laboratory of Smart Farming for Agricultural Animals, Ministry of Agriculture and Rural Affairs, Beijing, P.R. China; College of Informatics, Huazhong Agricult
We introduce a cell-free DNA (cfDNA) fragmentation pattern: the fragment dispersity index (FDI), which integrates information on the distribution of cfDNA fragment ends with the variation in fragment coverage, enabling precise characterization of chromatin accessibility in specific regions. The FDI shows a strong correlation with chromatin accessibility and gene expression, and regions with high FDI are enriched in active regulatory elements. Using whole-genome cfDNA data from five datasets, we developed and validated the FDI-oncology model, which demonstrates robust performance in early cancer diagnosis, subtyping, and prognosis.
View Article and Find Full Text PDFJ Liq Biopsy
September 2025
Datar Cancer Genetics, Nashik, Maharashtra, India.
Liquid biopsy, specifically circulating tumor DNA (ctDNA) analysis, has emerged as a transformative tool in precision oncology, providing real-time, minimally invasive characterizations of the tumor and tumor dynamics. While tissue biopsy is a critical tool for baseline diagnosis of malignancy, it is often limited by sampling constraints and an inability to capture tumor heterogeneity. In this study, we explored the clinical utility of serial ctDNA testing in guiding therapeutic decisions across a cohort of 30 patients with diverse solid tumors.
View Article and Find Full Text PDFOpen Med (Wars)
August 2025
Department of Molecular and Translational Oncology, Maria Sklodowska-Curie National Research Institute of Oncology, Roentgena 5, 02-781, Warsaw, Poland.
Background: Recent studies have highlighted that one of the main drivers for metastatic formation and resistance to the therapy are circulating tumor cells (CTCs) and cancer stem-like cells (CSCs). Measuring the CTCs has emerged as a non-invasive procedure for selecting the patients with higher risk of progression/relapse. However, still there are no methods enabling the identification of stem-like phenotype of the CTCs.
View Article and Find Full Text PDFCurr Opin Endocrinol Diabetes Obes
October 2025
Department of Surgery, American Mission Hospital, Manama, Bahrain.
Purpose Of Review: To review the current medical evidence in the diagnosis and management of thyroid nodules.
Recent Findings: The widespread use of imaging modalities in recent years has led to frequent discovery of incidental thyroid nodules. These nodules are mostly benign (over 90%), hence precise insight in evaluating nodules of concern and following up other nodules is important to avoid unnecessary surgeries and its complications.
Nanoscale
September 2025
School of Biochemical Engineering, Indian Institute of Technology (BHU) Varanasi, Uttar Pradesh 221005, India.
Early-stage cancer diagnosis is considered a grand challenge, and even though advanced analytical assays have been established through molecular biology techniques, there are still clinical limitations. For example, low concentration of target biomarkers at early stages of cancer, background values from the healthy cells, individual variation, and factors like DNA mutations, remain the limiting factor in early cancer detection. Volatile organic compound (VOC) biomarkers in exhaled breath are produced during cancer cell metabolism, and therefore may present a promising way to diagnose cancer at the early stage since they can be detected both rapidly and non-invasively.
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