| 项目编号 |
PRJCA021338 |
| 项目标题 |
Expanded multimodal analysis of cell-free DNA methylomes for ultra-early detection of esophageal squamous cell carcinoma and precancerous lesions |
| 涉及领域 |
Medical |
| 数据类型 |
Whole genome sequencing
Epigenomics
|
| 物种名称 |
Homo sapiens
|
| 描述信息 |
Detecting early-stage esophageal squamous cell carcinoma (ESCC) and precancerous lesions is critical for improving survival. Here, we conducted whole-genome bisulfite sequencing (WGBS) in 460 cfDNA samples of no-metastatic ESCC or precancerous lesions and matched healthy controls from multicenter. We developed an expanded multimodal analysis (EMMA) framework to simultaneously identify cfDNA methylation, copy number variants (CNVs), and fragmentation markers in cfDNA WGBS data. cfDNA methylation markers are the earliest and most sensitive, detectable in 70% of ESCCs and 50% of precancerous lesions, and associated with molecular subtypes and tumor microenvironments. CNVs and fragmentation features showed high specificity but were linked to late-stage disease. EMMA significantly improved the detection rate, increasing AUCs from 0.90 to 0.99, and detected 87% of ESCCs and 62% of precancerous lesions with >95% specificity in validation cohorts. Our findings demonstrate the potential of multimodal analysis of cfDNA methylome for ultra-early ESCC detection and monitoring of molecular characteristics. |
| 样品范围 |
Multiisolate |
| 发布日期 |
2023-11-16 |
| 出版信息 |
| PubMed ID |
文章标题 |
杂志名称 |
Doi |
发表年份 |
| 38697989
|
Multimodal analysis of cfDNA methylomes for early detecting esophageal squamous cell carcinoma and precancerous lesions
|
Nature Communications
|
10.1038/s41467-024-47886-1
|
2024
|
|
|
| 项目资金来源 |
| 机构 |
项目类型 |
授权项目ID |
授权项目名称 |
| Ministry of Science and Technology of the People's Republic of China (MOST)
|
National Key Technologies R&D Program
|
2021YFC2501000
|
|
|
|
| 提交者 |
Zhihua
Liu (liuzh@cicams.ac.cn)
|
| 提交单位 |
National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College |
| 提交日期 |
2023-11-16 |
