Biomarker Research最新文献

{"title":"Pharmacokinetics of post-transplant cyclophosphamide and its associations with clinical outcomes in pediatric haploidentical hematopoietic stem cell transplantation.","authors":"Kyung Taek Hong, Sungyeun Bae, Yoon Sunwoo, Juyeon Lee, Hyun Jin Park, Bo Kyung Kim, Jung Yoon Choi, Joo-Youn Cho, Kyung-Sang Yu, Jaeseong Oh, Hyoung Jin Kang","doi":"10.1186/s40364-025-00749-3","DOIUrl":"10.1186/s40364-025-00749-3","url":null,"abstract":"<p><strong>Background: </strong>Post-transplantation cyclophosphamide (PTCy) has paved the way for the increased use of alternative donors, including haploidentical familial donors, with acceptable engraftment and graft-versus-host disease (GVHD) rates. However, pharmacokinetic studies of PTCy in the pediatric population following myeloablative conditioning regimens are scarce.</p><p><strong>Methods: </strong>We conducted a prospective and comprehensive pharmacokinetic analysis of pre- and post-transplantation cyclophosphamide levels in pediatric patients undergoing haploidentical hematopoietic stem cell transplantation (HSCT) using a myeloablative busulfan-based conditioning regimen. A total of 14 samples were collected from each patient. Plasma concentrations of cyclophosphamide and carboxycyclophosphamide were analyzed, and clinical outcomes were recorded. The simulated pharmacokinetic profiles of cyclophosphamide and its metabolites were compared among different age groups using real-world data.</p><p><strong>Results: </strong>A total of 15 pediatric patients (median age at HSCT 9.6 years, range 1.6-16.8) were enrolled. Thirteen patients had malignant disease. All patients achieved successful neutrophil engraftment, and the cumulative incidences of grade 2-4 acute GVHD and moderate-to-severe chronic GVHD were 13.3% and 14.7%, respectively. The patterns of cyclophosphamide pharmacokinetic parameters were similar between the pre- and post-HSCT doses. The metabolic ratio increased with subsequent doses of PTCy. Patients with severe veno-occlusive disease showed a higher cumulative area under the curve (AUC) of carboxycyclophosphamide (62.6 vs. 40.2 mg x h/L, P = 0.025), while patients with > grade 3 hemorrhagic cystitis had a higher cumulative AUC of cyclophosphamide (1256.2 vs. 778.2 mg x h/L, P = 0.009). In contrast, there were no notable differences in the pharmacokinetic parameters of cyclophosphamide and carboxycyclophosphamide between the groups with and without acute and chronic GVHD. The AUC of cyclophosphamide and its metabolite were similar in children weighing ≥ 30 kg and the virtual adult population.</p><p><strong>Conclusions: </strong>Our study provides insights into the pharmacokinetic profile of cyclophosphamide and its metabolite, carboxycyclophosphamide, in pediatric patients undergoing haploidentical HSCT with PTCy. The intricate interplay between pharmacokinetic parameters and post-HSCT complications suggests the need for tailored adjustments in PTCy dosage, particularly in pediatric patients subjected to myeloablative conditioning regimens.</p>","PeriodicalId":54225,"journal":{"name":"Biomarker Research","volume":"13 1","pages":"48"},"PeriodicalIF":9.5,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11934747/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143702229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Global, regional and national burden of rheumatoid arthritis from 1990 to 2021, with projections of incidence to 2050: a systematic and comprehensive analysis of the Global Burden of Disease study 2021.","authors":"Yingnan Ma, Haiyan Chen, Wenhua Lv, Siyu Wei, Yuping Zou, Ruilin Li, Jiacheng Wang, Wei She, Linna Yuan, Junxian Tao, Xuying Guo, Shuo Bi, Hongsheng Tian, Ye Ma, Hongmei Sun, Chen Sun, Jing Xu, Yu Dong, Jingxuan Kang, Hongchao Lv, Mingming Zhang, Yongshuai Jiang","doi":"10.1186/s40364-025-00760-8","DOIUrl":"10.1186/s40364-025-00760-8","url":null,"abstract":"<p><strong>Background: </strong>To provide insights into rheumatoid arthritis (RA) epidemiological trends, including prevalence, incidence, disability-adjusted life years (DALYs), corresponding average annual percentage change (AAPC), gender disparities, regional variations, age-specific rates, socio-economic correlations, risk factors, and future projections.</p><p><strong>Methods: </strong>Data were extracted from the Global Burden of Disease Study (GBD) 2021. AAPC was calculated by joinpoint regression and two-sample Mendelian randomization (MR) analysis was performed to verify the causal relationship between the smoking factor and RA. The future incidence trend was predicted by the Bayesian age-period-cohort (BAPC) model.</p><p><strong>Results: </strong>Global age-standardized prevalence rate (ASPR) and age-standardized incidence rate (ASIR) increased significantly while age-standardized DALYs rate (ASDR) decreased from 1990 to 2021. Regional variations were pronounced, with Andean Latin America reporting the highest burden. Females consistently exhibited higher age-standardized rate (ASR) across all metrics. Age-specific prevalence, incidence, and DALYs rates peaked at different age groups, highlighting complex demographic dynamics. Socio-demographic index (SDI) analysis demonstrated a positive correlation between RA burden and socio-economic development. The two-sample MR analysis confirmed a causal effect between smoking and RA. From 2022 to 2050, the ASIR will increase moderately.</p><p><strong>Conclusions: </strong>The study underscores the escalating burden of RA globally, emphasizing the need for healthcare providers to be aware of the effects of aging populations and other societal factors on the risk of developing RA, and to develop targeted interventions, including smoking cessation programs, age- and gender-appropriate healthcare, and early diagnosis strategies.</p>","PeriodicalId":54225,"journal":{"name":"Biomarker Research","volume":"13 1","pages":"47"},"PeriodicalIF":9.5,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11931880/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143702283","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dynamic changes of bone microarchitecture and volumetric mineral density assessed by HR-pQCT in patients with cervical cancer after concurrent chemoradiotherapy: a prospective study.","authors":"Weishi Cheng, Yijun Wu, Jing Shen, Hui Guan, Li Zhang, Hongnan Zhen, Yinjie Tao, Weibo Xia, Zhikai Liu, Fuquan Zhang","doi":"10.1186/s40364-025-00754-6","DOIUrl":"10.1186/s40364-025-00754-6","url":null,"abstract":"<p><p>Bone changes in patients undergoing pelvic radiotherapy remain unclear. This study initially utilized high-resolution peripheral quantitative computed tomography (HR-pQCT) to assess the dynamic changes in bone microarchitecture and volumetric bone mineral density (BMD) in patients with cervical cancer before and after concurrent chemoradiotherapy. This prospective, observational study included patients with squamous carcinoma of the cervix scheduled for concurrent chemoradiotherapy. Patients underwent HR-pQCT, dual-energy X-ray absorptiometry (DXA) and laboratory tests before chemoradiotherapy, and at three and six months post-chemoradiotherapy. DXA, serving as the clinical standard for measuring BMD, was employed alongside HR-pQCT to provide complementary insights into bone micro-changes. The primary endpoint comprised changes in total (Tt.vBMD), trabecular (Tb.vBMD) and cortical (Ct.vBMD) volumetric BMD at the distal radius and tibia between pre-chemoradiotherapy and 6 months post-chemoradiotherapy. A total of 21 patients were enrolled, and one patient chose to withdraw (median age: 54.5 years). Tt.vBMD significantly decreased three months (distal radius: -1.65%, P = 0.008; distal tibia: -2.4%, P < 0.001) and six months (distal radius: -3.03%, P = 0.003; distal tibia: -2.69%, P = 0.002) post-chemoradiotherapy compared to baseline. Similarly, Tb.vBMD and Ct.vBMD demonstrated a significant downward trend post-chemoradiotherapy, with mean percent changes at three months of -0.73% and - 1.59% for the distal radius, and - 1.95% and - 1.50% for the distal tibia, respectively. The trends in BMD changes measured by DXA align with those observed using HR-pQCT. Regarding the laboratory tests, estradiol levels significantly decreased post-chemoradiotherapy, while follicle stimulating hormone and luteinizing hormone levels significantly increased. The results found that concurrent chemoradiotherapy was associated with the changes in bone volume, microstructure and BMD, especially in BMD three months post-chemoradiotherapy. Most of the bone micro-changes had not reverted by six months. This study explored the feasibility of early fracture risk identification post-chemoradiotherapy, aiding physicians in taking timely measures to improve prognosis.</p>","PeriodicalId":54225,"journal":{"name":"Biomarker Research","volume":"13 1","pages":"46"},"PeriodicalIF":9.5,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11921580/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143659627","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Integrating artificial intelligence in drug discovery and early drug development: a transformative approach.","authors":"Alberto Ocana, Atanasio Pandiella, Cristian Privat, Iván Bravo, Miguel Luengo-Oroz, Eitan Amir, Balazs Gyorffy","doi":"10.1186/s40364-025-00758-2","DOIUrl":"10.1186/s40364-025-00758-2","url":null,"abstract":"<p><p>Artificial intelligence (AI) can transform drug discovery and early drug development by addressing inefficiencies in traditional methods, which often face high costs, long timelines, and low success rates. In this review we provide an overview of how to integrate AI to the current drug discovery and development process, as it can enhance activities like target identification, drug discovery, and early clinical development. Through multiomics data analysis and network-based approaches, AI can help to identify novel oncogenic vulnerabilities and key therapeutic targets. AI models, such as AlphaFold, predict protein structures with high accuracy, aiding druggability assessments and structure-based drug design. AI also facilitates virtual screening and de novo drug design, creating optimized molecular structures for specific biological properties. In early clinical development, AI supports patient recruitment by analyzing electronic health records and improves trial design through predictive modeling, protocol optimization, and adaptive strategies. Innovations like synthetic control arms and digital twins can reduce logistical and ethical challenges by simulating outcomes using real-world or virtual patient data. Despite these advancements, limitations remain. AI models may be biased if trained on unrepresentative datasets, and reliance on historical or synthetic data can lead to overfitting or lack generalizability. Ethical and regulatory issues, such as data privacy, also challenge the implementation of AI. In conclusion, in this review we provide a comprehensive overview about how to integrate AI into current processes. These efforts, although they will demand collaboration between professionals, and robust data quality, have a transformative potential to accelerate drug development.</p>","PeriodicalId":54225,"journal":{"name":"Biomarker Research","volume":"13 1","pages":"45"},"PeriodicalIF":9.5,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11909971/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143634977","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"NLRP4 unlocks an NK/macrophages-centered ecosystem to suppress non-small cell lung cancer.","authors":"Zhouwenli Meng, Jian Li, Hui Wang, Zhengqi Cao, Wenqing Lu, Xiaomin Niu, Yi Yang, Ziming Li, Ying Wang, Shun Lu","doi":"10.1186/s40364-025-00756-4","DOIUrl":"10.1186/s40364-025-00756-4","url":null,"abstract":"<p><strong>Background: </strong>Tumor immune evasion extends beyond T cells, affecting innate immune elements like natural killer cells (NK) and macrophages within the tumor-immune microenvironment (TIME). Nevertheless, translational strategies to trigger collaboration of NK cells and macrophages to initiate sufficient anti-tumor cytoxicity remain scarce and are urgently needed.</p><p><strong>Methods: </strong>In this study, TCGA datasets was used to confirm the prognosis value of the expression level of NLR family pyrin domain containing 4 (NLRP4) in NSCLC and the tumor tissues microarray was used to further check its clinical-relevance at protein-level. Subsequently, a tumor cell line with stable NLRP4 overexpression was established and subcutaneous tumor models in C57BL/6J mice were used to validate the anti-tumor characteristics of NLRP4. After analyzing the tumor microenvironment using flow cytometry and multiplex immunofluorescence, we further validated our findings through co-culture transwell assays and TCGA analysis. Utilizing bulk-RNA sequencing, proteomics, and mass spectrometry of mouse tumor tissues, we innovatively identified the downstream pathways of NLRP4 and verified them through co-immunoprecipitation (co-IP) and Western blot (WB) experiments.</p><p><strong>Results: </strong>NLRP4 could trigger a distinct anti-tumor ecosystem organized by TIGIT⁺TNFA⁺ NK and iNOS⁺ M1 in lung cancer, discovered in TCGA analysis and verified in murine model. NLRP4-eco exerted tumor-suppression capacity through chemokine reprogramming including CCL5 and CXCL2. Meanwhile, the cytoxicity of NK could be facilitated by iNOS⁺M1. Mechanistically, NLRP4 stimulated PI3K/Akt-NF-kB axis through suppression of the activity of PP2A. Besides, knockdown of CCL5 and blockade of CXCL2-CXCR2 axis abolished chemotaxis of TIGIT⁺TNFA⁺ NK and iNOS⁺ M1 respectively, as well as for LB-100, a PP2A inhibitor.</p><p><strong>Conclusion: </strong>Altogether, we delineated NLRP4's unexplored facets and discovered an NLRP4-driven anti-tumor ecosystem composed of TIGIT⁺TNFA⁺ NK and iNOS⁺ M1. Finally, targeting PP2A by its inhibitor successfully mimicked the anti-tumor capacity of the overexpression of NLRP4.</p>","PeriodicalId":54225,"journal":{"name":"Biomarker Research","volume":"13 1","pages":"44"},"PeriodicalIF":9.5,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11909883/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143634979","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fatty acid metabolism shapes immune responses in chronic lymphocytic leukemia.","authors":"Yang Zhang, Jun Ma, Peipei Li, Kang Lu, Yang Han, Xinting Hu, Xiaosheng Fang, Xin Wang, Ya Zhang","doi":"10.1186/s40364-025-00753-7","DOIUrl":"10.1186/s40364-025-00753-7","url":null,"abstract":"<p><strong>Background: </strong>Fatty acids serve as a crucial energy source for tumor cells during the progression of chronic lymphocytic leukemia (CLL). The present study aims to elucidate the characteristics of fatty acid metabolism (FAM) in CLL, construct a related prognostic score, and investigate the regulatory role and mechanisms of FAM in CLL development.</p><p><strong>Methods: </strong>Bulk RNA sequencing data from CLL patients and healthy controls were analyzed to identify differentially expressed fatty acid metabolic genes. FAM-score was constructed using Cox-LASSO regression and validated. Single-cell RNA sequencing was used to analyze the expression of key FAM genes in CLL immune cell subsets and investigate cellular communication. Functional assays, including cell viability, drug sensitivity, and oxygen consumption assays, were performed to assess the impact of fatty acid oxidation (FAO) inhibition on CLL cells.</p><p><strong>Results: </strong>Three FAM-related genes (LPL, SOCS3, CNR1) were identified with independent prognostic significance to construct the risk score. The FAM-score demonstrated superior prognostic performance compared to the Binet stage and was associated with established clinical prognostic markers. Single-cell analysis revealed distinct expression patterns of LPL, SOCS3, and CNR1 across CLL immune cell subsets. Cellular communication analysis highlighted the regulatory role of distinct B cell and Treg subsets in the CLL microenvironment. CLL patients with high FAM-score displayed distinct immune infiltration patterns, with increased FAO pathway activity. Inhibition of FAO reduced CLL cell viability, synergistically enhanced the efficacy of the PI3K inhibitor idelalisib.</p><p><strong>Conclusion: </strong>The present study constructed a prognostic risk score based on FAM gene expression, revealing related immune phenotypic differences and exploring the regulatory role of FAO in CLL development. Targeting fatty acid metabolism potentially modulates the CLL immune microenvironment and synergistically enhances the efficacy of PI3K inhibitors.</p>","PeriodicalId":54225,"journal":{"name":"Biomarker Research","volume":"13 1","pages":"42"},"PeriodicalIF":9.5,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11905569/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143617853","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Targeting cGAS-STING pathway for reprogramming tumor-associated macrophages to enhance anti-tumor immunotherapy.","authors":"Weiyue Zhang, Xin Huang","doi":"10.1186/s40364-025-00750-w","DOIUrl":"10.1186/s40364-025-00750-w","url":null,"abstract":"<p><p>The cyclic GMP-AMP synthase (cGAS)-stimulator interferon genes (STING) signaling pathway plays a crucial role in activating innate and specific immunity in anti-tumor immunotherapy. As the major infiltrating cells in the tumor microenvironment (TME), tumor-associated macrophages (TAMs) could be polarized into either anti-tumor M1 or pro-tumor M2 types based on various stimuli. Accordingly, targeted reprogramming TAMs to restore immune balance shows promise as an effective anti-tumor strategy. In this review, we aim to target cGAS-STING pathway for reprogramming TAMs to enhance anti-tumor immunotherapy. We investigated the double-edged sword effects of cGAS-STING in regulating TME. The regulative roles of cGAS-STING pathway in TAMs and its impact on the TME were further revealed. More importantly, several strategies of targeting cGAS-STING for reprogramming TAMs were designed for enhancing anti-tumor immunotherapy. Taken together, targeting cGAS-STING pathway for reprogramming TAMs in TME might be a promising strategy to enhance anti-tumor immunotherapy.</p>","PeriodicalId":54225,"journal":{"name":"Biomarker Research","volume":"13 1","pages":"43"},"PeriodicalIF":9.5,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11905658/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143617786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction: Disulfidptosis decoded: a journey through cell death mysteries, regulatory networks, disease paradigms and future directions.","authors":"Jinyu Chen, Boyuan Ma, Yubiao Yang, Bitao Wang, Jian Hao, Xianhu Zhou","doi":"10.1186/s40364-025-00761-7","DOIUrl":"10.1186/s40364-025-00761-7","url":null,"abstract":"","PeriodicalId":54225,"journal":{"name":"Biomarker Research","volume":"13 1","pages":"40"},"PeriodicalIF":9.5,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11899076/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143607005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nanobody-enhanced chimeric antigen receptor T-cell therapy: overcoming barriers in solid tumors with VHH and VNAR-based constructs.","authors":"Shasha Guo, Xiaozhi Xi","doi":"10.1186/s40364-025-00755-5","DOIUrl":"10.1186/s40364-025-00755-5","url":null,"abstract":"<p><p>CAR-T cells are genetically modified T lymphocytes that express chimeric antigen receptors (CAR) on their surfaces. These receptors enable T lymphocytes to recognize specific antigens on target cells, triggering a response that leads to targeted cytotoxicity. While CAR-T therapy has effectively treated various blood cancers, it faces significant challenges in addressing solid tumors. These challenges include identifying precise tumor antigens, overcoming antigen evasion, and enhancing the function of CAR-T cells within the tumor microenvironment. Single domain antibody, versatile tools with low immunogenicity, high stability, and strong affinity, show promise for improving the efficacy of CAR-T cells against solid tumors. By addressing these challenges, single domain antibody has the potential to overcome the limitations associated with ScFv antibody-based CAR-T therapies. This review highlights the benefits of utilizing single domain antibody in CAR-T therapy, particularly in targeting tumor antigens, and explores development strategies that could advance the field.</p>","PeriodicalId":54225,"journal":{"name":"Biomarker Research","volume":"13 1","pages":"41"},"PeriodicalIF":9.5,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11899093/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143606994","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"5-Hydroxymethylcytosine modifications in circulating cell-free DNA: frontiers of cancer detection, monitoring, and prognostic evaluation.","authors":"Danjun Song, Zhou Zhang, Jiaping Zheng, Wei Zhang, Jiabin Cai","doi":"10.1186/s40364-025-00751-9","DOIUrl":"10.1186/s40364-025-00751-9","url":null,"abstract":"<p><p>Developing accurate, clinically convenient, and non-invasive methods for early cancer detection, monitoring, and prognosis assessment is essential for improving patient survival rates, enhancing quality of life, and reducing the socioeconomic burden associated with cancer. This goal is critical in precision oncology. Genetic and epigenetic alterations in circulating cell-free DNA (cfDNA) have emerged as transformative tools for advancing early cancer detection, monitoring, and improving patient outcomes. Among these, 5-hydroxymethylcytosine (5hmC) modifications in circulating cfDNA stand out as promising epigenetic markers, offering insights into cancer initiation, progression, metastasis, and prognosis across various cancer types, such as lung cancer, colorectal cancer, and hepatocellular carcinoma. This review comprehensively explores the biology and sequencing methodologies of 5hmC, emphasizing their potential in cancer screening, diagnosis, treatment monitoring, and prognostic assessment. It highlights recent advancements in cfDNA-derived 5hmC signatures' applications, addressing their strengths and limitations in the context of clinical translation. Furthermore, this review outlines key challenges and future directions for integrating 5hmC modifications in cfDNA into routine clinical practice, facilitating personalized and non-invasive cancer management.</p>","PeriodicalId":54225,"journal":{"name":"Biomarker Research","volume":"13 1","pages":"39"},"PeriodicalIF":9.5,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11887266/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588152","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}