Adult Diffuse Gliomas: Prevalence of the IDH1 Mutation in a University Hospital

ABSTRACT

Introduction:  Gliomas are part of the primary tumors of the central nervous system and are neoplasms originating from glial cells. They are classified by the pattern of infiltration, histopathological grade, and molecular alterations. Mutations in the isocitrate dehydrogenase (IDH) enzyme identified in some glial tumors mark the beginning of carcinogenesis, increasing the functionality of the metabolic enzymes IDH1 and IDH2. Thus, adult diffuse gliomas are divided by the detection of this mutation, determining characteristics that can facilitate treatment, with specific targeted therapies such as vorasidenib and ivosidenib that improve patient prognosis.

Objective:  To analyze and correlate the prevalence of the IDH1-R132H mutation detected through tumor immunohistochemical examination and to evaluate the epidemiology of patients with gliomas who underwent surgical treatment between 2019 and 2023 at the Evangelical Mackenzie University Hospital (HUEM).

Method:  Cross-sectional and analytical study, with the collection of historical data from medical records at HUEM, analyzing the pathological anatomy report. The final sample consisted of 67 patients.

Results:  There was a higher prevalence of cases in white males, aged between 61-70 years. Regarding subtypes, the origin in astrocytes was the main one. IDH-wildtype glioblastomas of histological grade 4 prevailed. During the study period, the majority passed away.

Conclusion:  The presence of IDH1 mutations, combined with other genomic alterations, can define the prognosis and the strategy of choice for treating patients. Thus, it shows the importance of expanding immunohistochemical knowledge of gliomas, as this can lead to more effective therapeutic strategies.

Key words:
Glioma/surgery; Mutation; Immuno-Histochemistry