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OA
Research progress on early diagnosis of head and neck squamous cell carcinoma based on cfDNA multi-omics models
头颈部鳞状细胞癌(head and neck squamous cell carcinomas,HNSCC)是全球第六大常见癌症,其早期诊断因症状隐匿和特异性标志物缺乏而存在困难.随着液体活检技术的发展,循环游离DNA(circulating free DNA,cfDNA)作为其核心检测对象,具有非侵入性、动态监测和反映肿瘤特征的优势,在HNSCC早期筛查、预后评估和疗效监测中展现出应用前景.但现有的单组学研究仍受限于低灵敏度和肿瘤异质性的影响.通过结合基因组、转录组、表观组、蛋白质组信息的多组学整合策略,可显著提高诊断准确率,并揭示疾病分子机制.近年来,随着深度学习和机器学习技术被广泛运用于cfDNA的多组学数据分析,推动了相关标志物筛选和模型构建.现有研究表明,基于cfDNA的多组学模型有望提高HNSCC的早期诊断水平,并为精准医学的发展提供新方向.
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.
YANG Mingzhe;CHEN Renjie
Department of Otolaryngology and Head and Neck Surgery,the Second Affiliated Hospital of Nanjing Medical University,Nanjing 210003,ChinaDepartment of Otolaryngology and Head and Neck Surgery,the Second Affiliated Hospital of Nanjing Medical University,Nanjing 210003,China
医药卫生
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
head and neck squamous cell carcinomascell-free DNAliquid biopsymulti-omics integrationdeep learningearly diagnosisbiomarkersprecision medicine
《南京医科大学学报(自然科学版)》 2026 (1)
21-30,10
江苏省科技计划项目(BL2013038)
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