Characterization of genetic and epigenetic alterations in specific genes in HPV-positive and HPV-negative tumors of patients with head and neck squamous cell carcinoma

Abstract

Head and Neck Squamous Cell Carcinoma (HNSCC) is associated with high rates of incidence, morbidity and mortality. Currently, the therapy for these patients depends on the determination of tumor stage, however, patients with tumors of the same stage and location can evolve differently. Infection with human papilloma virus (HPV) has been described as an etiologic factor in the development of a subset of these patients, especially in tumors of the oropharynx with differences in clinical presentation, response profiles and treatment outcome.The possibility of identifying molecular markers that may influence the clinical management of these patients is of paramount importance. The presence of hypermethylation in the promoter region of specific genes is associated with repression of gene expression and has been deemed of significance with potential as a molecular marker in several tumors, including HNSCC. In addition, recent studies that performed the whole-exome sequencing of HNSCC samples identified genetic mutations in key genes related to progression of these tumors.Thus, assessment of the molecular profile of HNSCC through different approaches and techniques allows the identification of signaling pathways altered by different mechanisms, whose most representative genes may serve as candidates for diagnostic and prognostic markers as well as therapeutic targets. In view of this, this study aims to assess genetic and epigenetic alterations in specific genes in tumors induced by HPV (HPV-positive) and tumors induced by carcinogens (HPV-negative) of HNSCC patients, enabling the identification of markers that can be used in the clinical practice for a better stratification of the different subgroups of these tumors and consequently, a better determination of the prognosis and delineation of the best treatment design, contributing to the quality of life and better survival rates. (AU)