Pathways of HNSCC carcinogenesis: A results from bioinformatic analysis of Next Generation Sequencing data.

Presentation: S010
Topic: Cancer Biology
Type: Oral
Date: Sunday, July 9, 2023
Session: 10:45 AM - 12:15 PM Cancer Biology Session 1
Authors: Shweta Shweta, Dr; Manoj Pandey, Prof
Institution(s): Institute of Medical Sciences, Banaras Hindu University

Background- Head and neck squamous cell carcinomas are malignancies that originate from the mucosal epithelium of the upper aerodigestive tract (HNSCC). The head and neck treatment plan have significant challenges from late-stage diagnosis and high recurrence rates. We examined 102 patients through the next-generation sequencing in an attempt to identify new targeted therapies and driver genes.

Materials and Methods- The current study investigated the Gene Ontology (GO) and Functional pathway enrichment analysis, followed by the construction of the signaling and protein-protein interaction (PPI) network to discover associations among the genes. Disease Ontology (DO) analysis was performed to explore the various pathways linked with our key genes.

Results- Out of 102 patients 71 mutations were found HNSCC patients that underwent NGS screening. The mutations were identified  in 19 genes. The most common mutations were discovered to be p53, CDKN2A, and HRAS. The bioinformatics  analysis discovered the frequently occurring p53, CDKN2A, and HRAS signaling pathways associated with HNSCC. It was discovered that individuals with TP53 and CDKN2A mutations had statistically significant low 5-year OS rates.

Conclusion- In HNSCC, the presence of TP53 and CDKN2A mutations are driver mutations and predictor of poor overall survival, while the absence of any mutation had a statistically significant good overall survival rate. These findings can serve as new prognostic biomarkers, and HNSCC also exhibits a high frequency of targetable mutations and pathways, which may open up new therapeutic avenues for the treatment of HNSCC.