GENOMIC AND TRANSCRIPTOMIC ALTERATIONS IN THE ELN GENE NETWORK AND THEIR ASSOCIATION WITH HEAD AND NECK SQUAMOUS CELL CARCINOMA

Background: Head and neck squamous cell carcinoma (HNSCC) are a common form of cancer that arises in the mucosal surfaces of various anatomical locations, including the larynx, oral cavity, and nasal cavity. The ELN gene plays a crucial role in elastin synthesis, a protein responsible for maintaining the elasticity of skin, blood vessels, and ligaments, thereby preventing cell senescence. Genetic alterations in the ELN gene family may contribute to the development and progression of HNSCC. Objectives: This study aims to investigate the alterations in the ELN gene family and their potential association with HNSCC. Materials and Methods: Computational analyses were performed using publicly available databases, including UALCAN, cBioPortal, and STRING, to identify genetic changes in HNSCC patients. The study focused on mutations (missense and truncating), gene amplification, and deep deletions within the ELN gene family. Results: The analysis revealed a high frequency of alterations in ELN family member 11, occurring in 5% of HNSCC patients. Additionally, a significant variation in ELN gene expression was observed between normal samples and different cancer grades. Kaplan-Meier survival analysis indicated an insignificant difference for the MFAP2 gene but a significant difference for the FN1 gene between normal and primary tumour groups in HNSCC. Conclusion: These findings suggest a potential link between ELN gene alterations and HNSCC, emphasizing the necessity for further experimental validation to confirm these preliminary observations and elucidate the underlying mechanisms.