Genomic characterization and risk stratification of esophageal squamous dysplasia.
Med Rev (2021)
; 4(3): 244-256, 2024 Jun.
Article
in En
| MEDLINE
| ID: mdl-38919397
ABSTRACT
Objectives:
The majority of esophageal squamous dysplasia (ESD) patients progress slowly, while a subset of patients can undergo recurrence rapidly or progress to invasive cancer even after proper treatment. However, the molecular mechanisms underlying these clinical observations are still largely unknown.Methods:
By sequencing the genomic data of 160 clinical samples from 49 tumor-free ESD patients and 88 esophageal squamous cell carcinoma (ESCC) patients, we demonstrated lower somatic mutation and copy number alteration (CNA) burden in ESD compared with ESCC.Results:
Cross-species screening and functional assays identified ACSM5 as a novel driver gene for ESD progression. Furthermore, we revealed that miR-4292 promoted ESD progression and could serve as a non-invasive diagnostic marker for ESD.Conclusions:
These findings largely expanded our understanding of ESD genetics and tumorigenesis, which possessed promising significance for improving early diagnosis, reducing overtreatment, and identifying high-risk ESD patients.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Med Rev (2021)
Year:
2024
Document type:
Article
Affiliation country:
China