#AI Reads Urine# Uncovering urinary proteogenomic signatures associated with head and neck squamous cell carcinoma
Published 20 March, 2026
To explore non-invasive methods for the early diagnosis of head and neck squamous cell carcinoma (HNSCC), this study conducted mass spectrometry-based proteomic and proteogenomic analyses on urine samples from 19 male HNSCC patients and 10 healthy males, identifying a total of 1427 proteins. A total of 351 proteins were screened for quantitative comparison, and potential prognostic markers such as RNASE1, LRG1 and CD44 were discovered, among which CD44 was a key differential protein associated with HNSCC and held important prognostic value. Through cross-referencing with cancer variant databases, the study also detected 9 HNSCC-associated protein variants (6 variants of uncertain significance and 3 pathogenic variants) in urine, involving 6 genes including CP, GAA and SIAE. Notably, EFEMP1 p.(Asp175Asn) and GAA p.(Thr806Met) were detected in all patients, while SIAE p.(Pro210Leu) and GAA p.(Val19Met) were associated with advanced disease stages. Functional analysis revealed that these differential proteins and variants are involved in tumor-related processes such as epithelial-mesenchymal transition and neutrophil degranulation, and the urinary proteome can reflect the key pathophysiological mechanisms of HNSCC. The study confirmed that urine can serve as an effective biofluid for proteogenomic profiling of HNSCC, and the tumor-associated protein variants it contains can act as potential biomarkers. However, due to the small size and male-only composition of the study cohort, the findings are preliminary and require validation in larger, sex-balanced cohorts including patients with benign or inflammatory head and neck conditions. Further targeted experiments are also needed in the future to confirm the clinical application value of these biomarkers.
Mol Omics. 2026 Feb 6:aaiag002. doi: 10.1093/molecular-omics/aaiag002.
Youhe Gao
Statement: During the preparation of this work the author(s) used Doubao / AI reading for summarizing the content. After using this tool/service, the author(s) reviewed and edited the content as needed and take(s) full responsibility for the content of the published article.
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