Blood Reviews, Journal Year: 2024, Volume and Issue: unknown, P. 101237 - 101237
Published: Sept. 1, 2024
Language: Английский
Biomarker Research, Journal Year: 2025, Volume and Issue: 13(1)
Published: March 7, 2025
Abstract Developing accurate, clinically convenient, and non-invasive methods for early cancer detection, monitoring, prognosis assessment is essential improving patient survival rates, enhancing quality of life, reducing the socioeconomic burden associated with cancer. This goal critical in precision oncology. Genetic epigenetic alterations circulating cell-free DNA (cfDNA) have emerged as transformative tools advancing outcomes. Among these, 5-hydroxymethylcytosine (5hmC) modifications cfDNA stand out promising markers, offering insights into initiation, progression, metastasis, across various types, such lung cancer, colorectal hepatocellular carcinoma. review comprehensively explores biology sequencing methodologies 5hmC, emphasizing their potential screening, diagnosis, treatment prognostic assessment. It highlights recent advancements cfDNA-derived 5hmC signatures’ applications, addressing strengths limitations context clinical translation. Furthermore, this outlines key challenges future directions integrating routine practice, facilitating personalized management.
Language: Английский
Citations
2
Frontiers in Cell and Developmental Biology, Journal Year: 2023, Volume and Issue: 11
Published: Feb. 14, 2023
Disruption of the epigenetic program gene expression is a hallmark cancer that initiates and propagates tumorigenesis. Altered DNA methylation, histone modifications ncRNAs are feature cells. The dynamic changes during oncogenic transformation related to tumor heterogeneity, unlimited self-renewal multi-lineage differentiation. This stem cell-like state or aberrant reprogramming cells major challenge in treatment drug resistance. Given reversible nature modifications, ability restore epigenome through inhibition modifiers promising therapy for treatment, either as monotherapy combination with other anticancer therapies, including immunotherapies. Herein, we highlighted main alterations, their potential biomarker early diagnosis therapies approved treatment.
Language: Английский
Citations
37
Angewandte Chemie International Edition, Journal Year: 2022, Volume and Issue: 62(14)
Published: Dec. 16, 2022
The discovery of epigenetic bases has revolutionised the understanding disease and development. Among most studied marks are cytosines covalently modified at 5 position. In order to gain insight into their biological significance, ability determine spatiotemporal distribution within genome is essential. Techniques for sequencing on "next-generation" platforms often involve harsh chemical treatments leading sample degradation. Third-generation promises further revolutionise field by providing long reads, enabling coverage highly repetitive regions or structural variants considered unmappable next generation technology. While third-generation directly detect modifications continuously improving, present enzymatic derivatisation presents convenient means enhancing reliability. This Review techniques available detection cytosine platforms.
Language: Английский
Citations
32
Frontiers in Oncology, Journal Year: 2023, Volume and Issue: 13
Published: April 20, 2023
The assessment of the cancer mutational profile is crucial for patient management, stratification, and therapeutic decisions. At present, in hematological malignancies with a solid mass, such as lymphomas, tumor genomic profiling generally performed on tissue biopsy, but may harbor genetic lesions that are unique to other anatomical compartments. analysis circulating DNA (ctDNA) liquid biopsy an emerging approach allows genotyping monitoring disease during therapy follow-up. This review presents different methods ctDNA describes application malignancies. In diffuse large B-cell lymphoma (DLBCL) Hodgkin (HL), recapitulates can identify mutations otherwise absent biopsy. addition, changes amount after one or two courses chemotherapy significantly predict outcomes. has also been tested myeloid neoplasms promising results. addition analysis, carries potential future applications ctDNA, including fragmentation epigenetic patterns. On these grounds, several clinical trials aiming at incorporating treatment tailoring currently ongoing
Language: Английский
Citations
15
Cells, Journal Year: 2024, Volume and Issue: 13(4), P. 298 - 298
Published: Feb. 6, 2024
Accurate prognostic markers are essential for guiding effective lung cancer treatment strategies. The level of 5-hydroxymethylcytosine (5hmC) in tissue is independently associated with overall survival (OS) patients. We explored the value cell-free DNA (cfDNA) 5hmC through genome-wide analysis plasma samples from 97 In both training and validation sets, we discovered a cfDNA signature significantly OS built model calculated weighted predictive scores (wp-score) each sample. Low wp-scores were longer compared to high [median 22.9 versus 8.2 months; p = 1.30 × 10−10; hazard ratio (HR) 0.04; 95% confidence interval (CI), 0.00–0.16] (median 18.8 5.2 0.00059; HR 0.22; CI: 0.09–0.57) sets. predicted prognosis outperformed age, sex, smoking, TNM stage predicting outcomes. Our findings reveal critical genes signaling pathways aberrant levels, enhancing our understanding pathophysiology. study underscores potential as superior tool more personalized therapeutic strategies
Language: Английский
Citations
4
InFo Hämatologie + Onkologie, Journal Year: 2025, Volume and Issue: 28(1-2), P. 20 - 23
Published: Feb. 1, 2025
Citations
0
Cancers, Journal Year: 2025, Volume and Issue: 17(9), P. 1438 - 1438
Published: April 25, 2025
Liquid biopsy is classically defined as the detection of biomarkers in bodily fluids. One these can be circulating cell-free DNA (cfDNA) released by healthy or cancer cells during apoptosis. These fragments quantified and molecularly characterized techniques like digital droplet PCR (ddPCR) next-generation sequencing (NGS). By identifying common genetic epigenetic alterations associated with specific types, cfDNA tumor (ctDNA) serve robust for monitoring initiation progression. Other biomarkers, such microRNAs (miRNAs), extracellular vesicles, (CTCs) are also applied this context. has gained attention a versatile tool diagnostics, prognosis, therapeutic monitoring, minimal residual disease (MRD) across various malignancies, including hematological cancers myeloid lymphoid leukemias. Herein, we present comprehensive review liquid usage leukemia, focus on clinical utility ctDNA, miRNAs, exosomes treatment response, tracking clonal evolution, detecting disease. Our emphasizes translational implications tools improving patient outcomes outlines current challenges their integration into practice.
Language: Английский
Citations
0
Cells, Journal Year: 2024, Volume and Issue: 13(8), P. 715 - 715
Published: April 19, 2024
Immune checkpoint inhibitors (ICIs) drastically improve therapeutic outcomes for lung cancer, but accurately predicting individual patient responses to ICIs remains a challenge. We performed the genome-wide profiling of 5-hydroxymethylcytosine (5hmC) in 85 plasma cell-free DNA (cfDNA) samples from cancer patients and developed 5hmC signature that was significantly associated with progression-free survival (PFS). built predictive model quantify level validated validation, test, control sets. Low weighted scores (wp-scores) were longer PFS compared high wp-scores validation [median 7.6 versus 1.8 months; p = 0.0012; hazard ratio (HR) 0.12; 95% confidence interval (CI), 0.03–0.54] test (median 14.9 3.3 0.00074; HR 0.10; CI, 0.02–0.50) Objective response rates low or wp-score 75.0% (95% 42.8–94.5%) 0.0% 0.0–60.2%) set (p 0.019) 80.0% 44.4–97.5%) 0.0–36.9%) 0.0011). The also receiving single-agent ICI treatment < 0.05). In addition, demonstrated superior capability tumor programmed death-ligand 1 specificity prediction. Moreover, we identified novel 5hmC-associated genes signaling pathways integral cancer. This study provides proof-of-concept evidence cfDNA is robust biomarker
Language: Английский
Citations
3
Clinical Cancer Research, Journal Year: 2024, Volume and Issue: 30(15), P. 3337 - 3348
Published: May 30, 2024
Detection of colorectal carcinomas at a time when there are more treatment options is associated with better outcomes. This prospective case-control study assessed the 5-hydroxymethylcytosine (5hmC) biomarkers in circulating cell-free DNA (cfDNA) for early detection carcinoma and advanced adenomas (AA).
Language: Английский
Citations
3
View, Journal Year: 2024, Volume and Issue: 5(5)
Published: Aug. 8, 2024
Abstract Gliomas are highly heterogenous diseases with poor prognosis. Precise survival prediction could benefit further clinical decision‐making, trial incursion, and health economics. Recent research has emphasized the prognostic value of magnetic resonance imaging, pathological specimens, circulating biomarkers. However, integrative potential efficacy these modalities require to be validated. After incorporating 218 patients The Cancer Genome Atlas glioma datasets 54 Huashan cohort complementary information, we established a squeeze‐and‐excitation deep learning feature extractor for T1‐contrast enhanced images histological slides explored screen significant 5‐hydroxymethylcytosines (5hmC) profiles by least absolute shrinkage selection operator‐Cox regression. Therefore, prognostication predictive model high efficiency was obtained through support vector machine multimodal integration radiologic histopathologic imaging features, genome‐wide 5hmC in cell‐free DNA variables, suggesting valid strategy (concordance‐index = 0.897; Brier score 0.118) improved risk stratification patients.
Language: Английский
Citations
3