Hereditary oligodendroglioma related to the POT1 gene: case report
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Abstract
Introduction: Gliomas account for approximately 28 percent of central nervous system tumors. Less than 5 percent of gliomas have a familial origin, with non-syndromic genetic causes reported in the literature. This case presents a mother and daughter affected by oligodendrogliomas, both of whom signed informed consent. Clinical Case: A 52-year-old patient presented with headaches, dizziness, and epileptic seizures. Imaging studies diagnosed a right frontal lesion. Surgery was indicated, and the biopsy confirmed a grade 3 oligodendroglioma. The daughter, a 28-year-old asymptomatic patient, underwent a screening imaging study, which diagnosed a right frontal lesion. Surgery was also indicated, resulting in a diagnosis of grade 2 oligodendroglioma. Genetic testing performed on the daughter identified a variant of uncertain significance in the POT1 and NBN genes. Discussion: Other genetic variants of the POT1 gene have been reported in the literature in families with members diagnosed with oligodendrogliomas. This case report contributes to the literature with a new case of oligodendrogliomas with familial aggregation related to mutations in the POT1 gene.
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Oligodendroglioma, glioma
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