Relação dos polimorfismos nos genes P2RX7, TERT e EGFR na progressão e sobrevida de pacientes com Glioma.

Abstract

Introduction: Gliomas are central nervous system tumors with high lethality, influenced by clinical and molecular factors. Polymorphisms in the P2RX7, TERT, and EGFR genes have been investigated as potential prognostic markers. General objective: To evaluate the relationship between polymorphisms in the P2RX7, TERT, and EGFR genes and the progression and survival of patients with glioma. Manuscript 1: Retrospective observational cohort study including 44 patients diagnosed between 2018 and 2023. The SNPs rs3751143 and rs201921967 (P2RX7), rs2736100 (TERT), and rs2853669, rs4947986, and rs845552 (EGFR) were analyzed. Overall survival was assessed using Kaplan–Meier curves and Cox regression. Results: Most polymorphisms showed no significant association with survival. The TERT rs2736100 SNP was associated with better prognosis, with reduced mortality risk in the AC genotype (HR = 0.200; 95% CI: 0.064–0.623; p = 0.005). Manuscript 2: In the same cohort, the association between clinical symptoms at diagnosis and survival was evaluated. Bilateral paresis remained independently associated with worse prognosis (HR = 4.449; 95% CI: 1.043 18.983; p = 0.044). Results: Bilateral paresis was identified as an independent clinical marker of poorer survival, reinforcing the importance of neurological assessment in prognostic stratification. Final considerations: The findings indicate that the TERT rs2736100 polymorphism may act as a prognostic marker in gliomas, being associated with improved survival, while bilateral paresis at diagnosis was identified as an independent clinical factor of worse prognosis. Together, the results reinforce the importance of integrating molecular markers and clinical evaluation in risk stratification of these patients, and further studies with larger samples are needed for confirmation.