Neurogenetic of IDH and epidemiological profile of central nervous system tumors in the Northern Santa Catarina Plateau

Abstract

The incidence of central nervous system (CNS) tumors varies according to demographic and genetic factors, and it is relevant to understand their distribution in different regions. The objective of this study was to characterize the epidemiological and molecular profile of patients with CNS tumors who underwent surgical resection in a regional hospital in southern Brazil. This is a retrospective cohort study, with a quantitative approach, based on medical records of patients treated between January 2022 and December 2023. Cases with confirmed histopathological diagnosis and immunohistochemical examination were included, with emphasis on the analysis of the mutation of the IDH1 gene. A total of 70 patients were analyzed, with a predominance of males (53.13%) and a mean age of 52.6 years. All were treated by the Unified Health System (SUS). About 50% of the cases were not primary CNS tumors, but inflammatory lesions, benign tumors (meningioma, schwannoma), or metastases. Among the primary tumors, the most prevalent were pituitary adenoma (10.45%) and high-grade glioma (8.95%). There was a difference in distribution by sex, with a higher prevalence of high-grade gliomas in men and pituitary adenomas in women. Regarding molecular analysis, 20.9% of the patients were tested for IDH1, of which 71.43% had IDH1-type tumors, associated with a worse prognosis. It is concluded that the regional characterization of CNS tumors, with the inclusion of molecular markers, contributes to the improvement of diagnosis and therapeutic planning, reinforcing the importance of public policies based on local data.

Key words: tumors; central nervous system; neurogenetics.