Neurogenetic study of central nervous system tumors: a comparative analysis with epidemiological biomarkers for the construction of a computerized database

Introduction: The Central Nervous System (CNS), comprising the brain and spinal cord, is vital for coordinating bodily functions. Tumors in the CNS manifest as various intracranial and spinal neoplasms. Understanding the risk factors of these tumors is crucial for early identification, proper management, and effective preventive strategies. Advances in the identification of neurogenetic biomarkers have the potential to transform the diagnosis and treatment of CNS tumors, enabling early detection, risk stratification, and the development of personalized therapies.

Objectives: This study aims to review the literature on risk factors and neurogenetic markers associated with CNS tumors. The focus is on identifying and analyzing how these factors influence the development of neoplasms and how neurogenetic markers can amplify or mitigate their impact on CNS carcinogenesis.

Methodology: The systematic review followed PRISMA guidelines. The research was conducted in databases such as PubMed and Web of Science. Studies in English and Portuguese from 2014 to 2024 were included. A total of 26 articles were selected for review.

Results: Biomarkers such as MGMT gene promoter methylation, specific genetic variants, and polymorphisms are associated with susceptibility to CNS tumors and chemotherapy resistance. CNS carcinogenesis involves a complex interaction between genetic, environmental, and behavioral factors, such as smoking and alcohol consumption. Advanced sequencing technologies and bioinformatics have been crucial in identifying new biomarkers and understanding the molecular pathways of CNS cancer. These approaches are essential for personalized medicine and the development of more effective and targeted therapies.

Conclusion: The review highlighted the complexity of factors contributing to CNS tumors, including genetic, epigenetic, environmental, and behavioral influences. Understanding these factors is essential to improving preventive and therapeutic strategies. The results reinforce the importance of an integrative approach, considering genetic and epigenetic markers. Continued research is necessary to understand the interactions between markers and cancer development, aiming to enhance prevention, diagnosis, and treatment.

Corresponding author: Carina Toledo Scoparo Barioni (e-mail: scoparo@gmail.com).