Liquid biopsy in cancer current: status, challenges and future prospects

Signal Transduction and Targeted Therapy, Journal Year: 2024, Volume and Issue: 9(1)

Published: Dec. 1, 2024

Cancer has a high mortality rate across the globe, and tissue biopsy remains gold standard for tumor diagnosis due to its level of laboratory standardization, good consistency results, relatively stable samples, accuracy results. However, there are still many limitations drawbacks in application tumor. The emergence liquid provides new ideas early prognosis Compared with biopsy, advantages treatment various types cancer, including non-invasive, quickly so on. Currently, detection received widely attention. It is now undergoing rapid progress, it holds significant potential future applications. Around now, biopsies encompass several components such as circulating cells, DNA, exosomes, microRNA, RNA, platelets, endothelial cells. In addition, advances identification indicators have significantly enhanced possibility utilizing clinical settings. this review, we will discuss application, challenges some common tumors from perspective diverse systems tumors, look forward development prospects field cancer treatment.

Language: Английский

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Variant allele frequency: a decision-making tool in precision oncology?

Trends in cancer, Journal Year: 2023, Volume and Issue: 9(12), P. 1058 - 1068

Published: Sept. 12, 2023

Language: Английский

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Diagnostic value of liquid biopsy in the era of precision medicine: 10 years of clinical evidence in cancer

Exploration of Targeted Anti-tumor Therapy, Journal Year: 2023, Volume and Issue: unknown, P. 102 - 138

Published: Feb. 28, 2023

Liquid biopsy is a diagnostic repeatable test, which in last years has emerged as powerful tool for profiling cancer genomes real-time with minimal invasiveness and tailoring oncological decision-making. It analyzes different blood-circulating biomarkers circulating tumor DNA (ctDNA) the preferred one. Nevertheless, tissue remains gold standard molecular evaluation of solid tumors whereas liquid complementary many clinical settings, such treatment selection, monitoring response, clonal evolution, prognostic evaluation, well detection early disease residual (MRD). A wide number technologies have been developed aim increasing their sensitivity specificity acceptable costs. Moreover, several preclinical studies conducted to better understand utility. Anyway, issues are still limitation its use false positive negative results, results interpretation, standardization panel tests. Although there rapid development research these fields recent advances setting, trials needed make an instrument routine. This review provides overview current future applications opening questions particular attention ctDNA biopsy.

Language: Английский

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Exosomes Barcoding: A smart approach for cancer liquid biopsy

The Journal of Liquid Biopsy, Journal Year: 2023, Volume and Issue: 2, P. 100129 - 100129

Published: Nov. 26, 2023

Cancer is an unsolved health crisis worldwide. Extracellular vesicles (EVs) address this problem in a new way. In cancer, early detection highly challenging, exosomes (a subpopulation of EVs, originating from endosomes) overcome limitation. tumor-derived (TEXs) play role as signaling molecules cancer development and progression. TEXs required more detailed investigation for specific biomarkers research. Exosome heterogeneity (some the facts regulate it such exosome size, origin, inner molecular diversity) made complication liquid biopsy. Single profiling barcoding support overcoming limitation developing precision oncology. interdisciplinary approach screening specifically.

Language: Английский

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Extracellular vesicles associated microRNAs: Their biology and clinical significance as biomarkers in gastrointestinal cancers

Seminars in Cancer Biology, Journal Year: 2024, Volume and Issue: 99, P. 5 - 23

Published: Feb. 1, 2024

Language: Английский

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Detection rate for ESR1 mutations is higher in circulating‐tumor‐cell‐derived genomic DNA than in paired plasma cell‐free DNA samples as revealed by ddPCR

Molecular Oncology, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 4, 2025

Plasma cell‐free DNA (cfDNA) analysis to track estrogen receptor 1 ( ESR1 ) mutations is highly beneficial for the identification of tumor molecular dynamics and improvement personalized treatments patients with metastatic breast cancer (MBC). Plasma‐cfDNA is, up now, most frequent liquid biopsy analyte used evaluate mutational status. Circulating cell (CTC) enumeration characterization provides important clinical information in MBC. In this study, we investigated whether CTCs circulating (ctDNA) provide similar or complementary mutations. We analyzed both plasma‐cfDNA n = 90) paired CTC‐derived genomic (gDNA; 42) from 90 MBC seven Eight out (8.9%) samples tested using ddPLEX Mutation Detection Assay (Bio‐Rad, Hercules, CA, USA), were found positive one mutation, whereas 11/42 (26.2%) gDNA at least mutation. Direct comparison revealed that mutation rate was higher (11/42, 26.2%) than (6/42, 14.3%) samples. Our results, sensitive assay, reveal a percentage gDNAs ctDNA should be further evaluated as an tool identifying guiding individualized therapy.

Language: Английский

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Bile-Derived cfDNA of Syncytin-1 and SLC7A11 as a Potential Molecular Marker for Early Diagnosis of Cholangiocarcinoma

Journal of Gastrointestinal Cancer, Journal Year: 2025, Volume and Issue: 56(1)

Published: Jan. 28, 2025

Language: Английский

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Application of Digital Polymerase Chain Reaction (dPCR) in Non-Invasive Prenatal Testing (NIPT)

Biomolecules, Journal Year: 2025, Volume and Issue: 15(3), P. 360 - 360

Published: March 1, 2025

This article reviews the current applications of digital polymerase chain reaction (dPCR) in non-invasive prenatal testing (NIPT) and explores its potential to complement or surpass capabilities Next-Generation Sequencing (NGS) testing. The growing incidence genetic disorders maternal–fetal medicine has intensified demand for precise accessible NIPT options, which aim minimize need invasive diagnostic procedures. Cell-free fetal DNA (cffDNA), core analyte NIPT, is influenced by numerous factors such as maternal contamination, placental health, fragment degradation. dPCR, with inherent precision ability detect low-abundance targets, demonstrates robustness against these interferences. Although NGS remains gold standard due comprehensive capabilities, high costs limit widespread use, particularly resource-limited settings. In contrast, dPCR provides comparable accuracy lower complexity expense, making it a promising alternative

Language: Английский

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Advancing Personalized Medicine in Alzheimer’s Disease: Liquid Biopsy Epigenomics Unveil APOE ε4-Linked Methylation Signatures

International Journal of Molecular Sciences, Journal Year: 2025, Volume and Issue: 26(7), P. 3419 - 3419

Published: April 5, 2025

Recent studies show that patients with Alzheimer's disease (AD) harbor specific methylation marks in the brain that, if accessible, could be used as epigenetic biomarkers. Liquid biopsy enables study of circulating cell-free DNA (cfDNA) fragments originated from dead cells, including neurons affected by neurodegenerative processes. Here, we isolated and epigenetically characterized plasma cfDNA 35 AD cognitively healthy controls using Infinium® MethylationEPIC BeadChip array. Bioinformatics analysis was performed to identify differential positions (DMPs) regions (DMRs), APOE ε4 genotype stratified analysis. Plasma pTau181 (Simoa) cerebrospinal fluid (CSF) core biomarkers (Fujirebio) were also measured correlated marks. Validation bisulfite pyrosequencing cloning sequencing. Epigenome-wide identified 102 DMPs associated status. Most clinical cognitive functional tests 60% for Mini-Mental State Examination (MMSE) 80% Global Deterioration Scale (GDS), blood CSF In silico connected 30 neurological processes, identifying key regulators such SPTBN4 genes. Several DMRs annotated genes previously reported changes (HKR1, ZNF154, HOXA5, TRIM40, ATG16L2, ADAMST2) linked genotypes. Notably, a DMR HKR1 gene, shown hypermethylated hippocampus, validated an orthogonal perspective. These results support feasibility studying potential AD. Thus, liquid improve non-invasive diagnosis aid personalized medicine detecting markers blood.

Language: Английский

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Research tests for the diagnosis of tuberculosis infection

Expert Review of Molecular Diagnostics, Journal Year: 2023, Volume and Issue: 23(9), P. 783 - 795

Published: Aug. 10, 2023

Introduction Despite huge efforts, tuberculosis (TB) is still a major public health threat worldwide, it estimated that quarter of the global population infected by Mycobacterium (Mtb). For controlling TB and reducing Mtb transmission fundamental to diagnose infection (TBI) as well progressors from TBI disease identify those requiring preventive therapy. At present, there no gold standard test for diagnosis although several new methodologies have been attempted.Areas covered This review provides an update on most recent approaches develop reliable tests disease. Experimental are based either direct identification (i.e., DNA upon host cells isolation; proteins or peptides) response levels quality specific anti-Mtb antibodies; blood transcriptome signatures).Expert opinion The experimental described very interesting. However, further investigation randomized clinical trials needed improve sensitivity specificity these research-based tests. More proofs-of-concept simplification technical procedures necessary diagnostic tools identifying patients will progress

Language: Английский

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