MOLECULAR LANDSCAPE OF ORAL EPITHELIAL DYSPLASIA: GENE EXPRESSION PROFILING IN CHILEAN PATIENTS

ABSTRACT: ABSTRACTObjectives: To determine the relative gene expression levels and to describe and compare RNA sequence variations in samples from Chilean patients diagnosed with Oral epithelial dysplasia (OED) and oral squamous cell carcinoma (OSCC). Methodology: Transcriptome sequencing was performed on pooled samples of OED and compared with OSCC and healthy oral mucosa tissue samples. Subsequently, a variation analysis of the transcriptome was conducted, along with functional classification of the most enriched signaling pathways. Results: Dysregulated genes were found in both OED and OSCC compared to the control groups. The most overexpressed genes were KRTAP5-4, LCE3B, MYH2, DDX3Y, KDM5D, and MYH2, while the most repressed genes were TYRP1, HS3ST6, SNORA20, KRT76, TGM7, and SOX21 in OED and OSCC, respectively. A large proportion of the identified variants were single nucleotide polymorphisms (SNPs). Based on frameshift effects, missense mutations were the most common. The most enriched signaling pathways in OED were the Hippo, NOTCH, and TGF-beta pathways; in OSCC, the NGR2, TGF-beta, and PI3K pathways. Conclusion: This study revealed distinct gene expression patterns and variants associated with OED and OSCC in Chilean patients, contributing to a better understanding of their molecular landscape.

ORGANISM(S): Homo sapiens

PROVIDER: GSE307821 | GEO | 2026/09/01

REPOSITORIES: GEO