| Accession |
PRJCA021338 |
| Title |
Expanded multimodal analysis of cell-free DNA methylomes for ultra-early detection of esophageal squamous cell carcinoma and precancerous lesions |
| Relevance |
Medical |
| Data types |
Whole genome sequencing
Epigenomics
|
| Organisms |
Homo sapiens
|
| Description |
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. |
| Sample scope |
Multiisolate |
| Release date |
2023-11-16 |
| Publication |
| PubMed ID |
Article title |
Journal name |
DOI |
Year |
| 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
|
|
|
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| Ministry of Science and Technology of the People's Republic of China (MOST)
|
National Key Technologies R&D Program
|
2021YFC2501000
|
|
|
|
| Submitter |
Zhihua
Liu (liuzh@cicams.ac.cn)
|
| Organization |
National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College |
| Submission date |
2023-11-16 |
