Detection of the Mutated Enzyme isocitrate dehydrogenase-1 and Application into the Integrated Diagnosis of Diffuse Gliomas in Cuba
Keywords:
isocitrate dehydrogenase, gliomas, classification, CubaAbstract
Introduction: Gliomas account for 30-40 % of primary brain tumors. The presence or not of the nonsense mutation of the enzyme isocitrate dehydrogenase, in which a change of the amino acid arginine to histidine occurs at position 132, is an alteration found in 80 %-90 % of all these tumors. Considering that only in adult individuals with glioblastoma multiforme the enzyme mutation is not detected, its determination is necessary both for diagnosis and for new classifications.
Objective: To develop an integrated diagnostic algorithm for gliomas in Hospital Clínico-Quirúrgico Hermanos Ameijeiras, which could be extended to the whole country in the future.
Methods: A descriptive and retrospective study was conducted of brain biopsies from the period 2018-2021 and with diagnoses of gliomas, analyzed in the Department of pathological anatomy department at Hospital Clínico-Quirúrgico Hermanos Ameijeiras. The characteristics of interest in each case were collected. Immunohistochemistry was performed on the samples from 2020 and 2021, in order to detect the R132H mutation in the enzyme isocitrate dehydrogenase 1 and this determination was integrated into the diagnosis.
Results: Sixty-four patients with a mean age of 51 years were analyzed. Of the histopathological diagnoses, the most frequent were diffuse astrocytoma grade II (28.1 %), glioblastoma multiforme grade IV (25 %) and anaplastic astrocytoma grade III (20.3 %). Of the 31 cases analyzed for the presence of the enzyme isocitrate dehydrogenase 1, 5 (16.1 %) showed the mutation. It was also present in low-grade tumors.
Conclusions: Integrated tumor diagnosis offers better classification, with an impact on disease prediction and treatment.
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