5-Hydroxymethylcytosine modifications in circulating cell-free DNA: frontiers of cancer detection, monitoring, and prognostic evaluation

被引:0
作者
Song, Danjun [1 ,2 ,3 ]
Zhang, Zhou [4 ]
Zheng, Jiaping [3 ]
Zhang, Wei [4 ]
Cai, Jiabin [1 ,2 ]
机构
[1] Fudan Univ, Zhongshan Hosp, Dept Liver Surg, Xiamen Branch, Xiamen 361015, Fujian, Peoples R China
[2] Fudan Univ, Key Lab Carcinogenesis & Canc Invas, Shanghai Key Lab Organ Transplantat, Minist Educ,Dept Liver Surg & Transplantat,Liver C, Shanghai 200032, Peoples R China
[3] Chinese Acad Sci, Zhejiang Canc Hosp, Inst Hangzhou Med, Dept Intervent Therapy, Hangzhou 310022, Zhejiang, Peoples R China
[4] Northwestern Univ, Feinberg Sch Med, Dept Prevent Med, Chicago, IL 60611 USA
关键词
5-hydroxymethylcytosines (5hmC); Cell-free DNA (cfDNA); Liquid biopsy; Clinical application; BIOMARKERS; 5-METHYLCYTOSINE; CLASSIFICATION; METHYLATION; SIGNATURES; CHILDREN; MODEL;
D O I
10.1186/s40364-025-00751-9
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
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.
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收藏
页数:20
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共 138 条
[1]   Epidemiology of Esophageal Squamous Cell Carcinoma [J].
Abnet, Christian C. ;
Arnold, Melina ;
Wei, Wen-Qiang .
GASTROENTEROLOGY, 2018, 154 (02) :360-373
[2]   5-Hydroxymethylcytosine Profiles in Circulating Cell-Free DNA Associate with Disease Burden in Children with Neuroblastoma [J].
Applebaum, Mark A. ;
Barr, Erin K. ;
Karpus, Jason ;
West-Szymanski, Diana C. ;
Oliva, Meritxell ;
Sokol, Elizabeth A. ;
Zhang, Sheng ;
Zhang, Zhou ;
Zhang, Wei ;
Chlenski, Alexandre ;
Salwen, Helen R. ;
Wilkinson, Emma ;
Dobratic, Marija ;
Grossman, Robert L. ;
Godley, Lucy A. ;
Stranger, Barbara E. ;
He, Chuan ;
Cohn, Susan L. .
CLINICAL CANCER RESEARCH, 2020, 26 (06) :1309-1317
[3]   Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics [J].
Ardui, Simon ;
Ameur, Adam ;
Vermeesch, Joris R. ;
Hestand, Matthew S. .
NUCLEIC ACIDS RESEARCH, 2018, 46 (05) :2159-2168
[4]  
Bachman M, 2014, NAT CHEM, V6, P1049, DOI [10.1038/NCHEM.2064, 10.1038/nchem.2064]
[5]   Simultaneous single-cell analysis of 5mC and 5hmC with SIMPLE-seq [J].
Bai, Dongsheng ;
Zhang, Xiaoting ;
Xiang, Huifen ;
Guo, Zijian ;
Zhu, Chenxu ;
Yi, Chengqi .
NATURE BIOTECHNOLOGY, 2025, 43 (01) :85-96
[6]   Quantitative Sequencing of 5-Methylcytosine and 5-Hydroxymethylcytosine at Single-Base Resolution [J].
Booth, Michael J. ;
Branco, Miguel R. ;
Ficz, Gabriella ;
Oxley, David ;
Krueger, Felix ;
Reik, Wolf ;
Balasubramanian, Shankar .
SCIENCE, 2012, 336 (6083) :934-937
[7]   Global cancer statistics 2022: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries [J].
Bray, Freddie ;
Laversanne, Mathieu ;
Sung, Hyuna ;
Ferlay, Jacques ;
Siegel, Rebecca L. ;
Soerjomataram, Isabelle ;
Jemal, Ahmedin .
CA-A CANCER JOURNAL FOR CLINICIANS, 2024, 74 (03) :229-263
[8]   Effect of Colonoscopy Screening on Risks of Colorectal Cancer and Related Death [J].
Bretthauer, M. ;
Loberg, M. ;
Wieszczy, P. ;
Kalager, M. ;
Emilsson, L. ;
Garborg, K. ;
Rupinski, M. ;
Dekker, E. ;
Spaander, M. ;
Bugajski, M. ;
Holme, O. ;
Zauber, A. G. ;
Pilonis, N. D. ;
Mroz, A. ;
Kuipers, E. J. ;
Shi, J. ;
Hernan, M. A. ;
Adami, H-O ;
Regula, J. ;
Hoff, G. ;
Kaminski, M. F. .
NEW ENGLAND JOURNAL OF MEDICINE, 2022, 387 (17) :1547-1556
[9]   Genome-wide mapping of 5-hydroxymethylcytosines in circulating cell-free DNA as a non-invasive approach for early detection of hepatocellular carcinoma [J].
Cai, Jiabin ;
Chen, Lei ;
Zhang, Zhou ;
Zhang, Xinyu ;
Lu, Xingyu ;
Liu, Weiwei ;
Shi, Guoming ;
Ge, Yang ;
Gao, Pingting ;
Yang, Yuan ;
Ke, Aiwu ;
Xiao, Linlin ;
Dong, Ruizhao ;
Zhu, Yanjing ;
Yang, Xuan ;
Wang, Jiefei ;
Zhu, Tongyu ;
Yang, Deping ;
Huang, Xiaowu ;
Sui, Chengjun ;
Qiu, Shuangjian ;
Shen, Feng ;
Sun, Huichuan ;
Zhou, Weiping ;
Zhou, Jian ;
Nie, Ji ;
Zeng, Chang ;
Stroup, Emily Kunce ;
Zhang, Xu ;
Chiu, Brian C-H ;
Lau, Wan Yee ;
He, Chuan ;
Wang, Hongyang ;
Zhang, Wei ;
Fan, Jia .
GUT, 2019, 68 (12) :2195-2205
[10]   An integrative analysis of genome-wide 5-hydroxymethylcytosines in circulating cell-free DNA detects noninvasive diagnostic markers for gliomas [J].
Cai, Jiajun ;
Zeng, Chang ;
Hua, Wei ;
Qi, Zengxin ;
Song, Yanqun ;
Lu, Xingyu ;
Li, Dongdong ;
Zhang, Zhou ;
Cui, Xiaolong ;
Zhang, Xin ;
Yang, Zixiao ;
Zhang, Jinsen ;
Quan, Kai ;
Zhu, Wei ;
Cai, Jiabin ;
He, Chuan ;
Cheng, Shi-Yuan ;
Zhang, Wei ;
Mao, Ying .
NEURO-ONCOLOGY ADVANCES, 2021, 3 (01) :1842-1850