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Exploratory transcriptomic analysis of low-grade oral epithelial dysplasia and oral squamous cell carcinoma in
Mateus José Dutra1, Patricio Miranda Cortes2, Valentina Fernanda Fernández Díaz2
1Department of Oral Diagnosis, Piracicaba Dental School, Universidade Estadual de Campinas, Piracicaba, São Paulo, Brazil.
Background:
To explore and characterize gene expression patterns and RNA-seq-derived sequence variation in samples from Chilean patients with low-grade oral epithelial dysplasia (LG-OED) and oral squamous cell carcinoma (OSCC).
Methods And Results:
Transcriptome sequencing was performed on pooled samples of 5 LG-OED and compared with 5 OSCC and healthy oral mucosa tissue. Subsequently, a variation analysis of the transcriptome was conducted, along with functional classification of the most enriched signaling pathways. Dysregulated genes were found in both LG-OED and OSCC compared to the control groups. The most overexpressed genes were KRTAP5-4, LCE3B, DDX3Y, KDM5D, and MYH2, while the most repressed genes were TYRP1, HS3ST6, SNORA20, KRT76, TGM7, and SOX21 in LG-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 LG-OED were the Hippo, NOTCH, and TGF-beta pathways; in OSCC, the NRF2, TGF-beta, and PI3K pathways.
Conclusions:
This exploratory study provides an initial molecular characterization of LG-OED and OSCC in Chilean patients, identifying candidate transcriptomic alterations and RNA-seq-derived variants that may contribute to understanding early oral carcinogenesis in this underrepresented population.
