南京医科大学学报（自然科学版）2026，Vol.46Issue(1)：21-30,10.DOI:10.7655/NYDXBNSN251049
基于cfDNA多组学模型进行头颈部鳞状细胞癌早期诊断的研究进展
Research progress on early diagnosis of head and neck squamous cell carcinoma based on cfDNA multi-omics models
摘要
Abstract
Head and neck squamous cell carcinomas(HNSCC)rank as the sixth most common cancer globally,with early diagnosis challenging due to subtle symptoms and the absence of specific biomarkers.With the development of liquid biopsy technology,circulating free DNA(cfDNA),as its core test object,has the advantages of non-invasive,dynamic monitoring and reflecting tumor characteristics,and shows promising applications in early screening,prognostic assessment and efficacy monitoring of HNSCC.However,existing single-omics studies are still limited by low sensitivity and tumor heterogeneity.Multi-omics integration strategies combining genomic,transcriptomic,epigenomic,and proteomic information can significantly enhance diagnostic accuracy and reveal disease molecular mechanisms.In recent years,as deep learning and machine learning technologies have been widely applied to analyze multi-omics data of cfDNA,promoting relevant marker screening and model construction.Existing research indicates that multi-omics models based on cfDNA hold promise for improving early diagnosis of HNSCC and offer new directions for precision medicine development.关键词
头颈部鳞状细胞癌/循环游离DNA/液体活检/多组学整合/深度学习/早期诊断/生物标志物/精准医学Key words
head and neck squamous cell carcinomas/cell-free DNA/liquid biopsy/multi-omics integration/deep learning/early diagnosis/biomarkers/precision medicine分类
医药卫生引用本文复制引用
YANG Mingzhe,CHEN Renjie..基于cfDNA多组学模型进行头颈部鳞状细胞癌早期诊断的研究进展[J].南京医科大学学报（自然科学版）,2026,46(1):21-30,10.基金项目
江苏省科技计划项目(BL2013038) （BL2013038）
