RESUMO
Cerebellar glioblastoma (cGBM) is a rare, inadequately characterized disease, without detailed information on its molecular basis. This is the first report analyzing both TP53 and RAS alterations in cGBM. TP53 mutations were detected in more than half of the samples from our cohort, mainly in hotspot codons. There were no activating mutations in hotspot codons 12/13 and 61 of KRAS and HRAS genes in cGBM samples but we detected alterations in other parts of exons 2 and 3 of these genes, including premature induction of STOP codon. This mutation was present in 3 out of 5 patients. High incidence of RAS mutations, as well as significantly longer survival of cGBM patients compared to those with supratentorial GBM suggest that cGBM may have different mechanisms of occurrence. Our results suggest that inactivation of TP53 and RAS may play an important role in the progression of cerebellar GBM.
Assuntos
Neoplasias Cerebelares/genética , Glioblastoma/genética , Mutação , Proteínas Proto-Oncogênicas p21(ras)/genética , Proteínas Proto-Oncogênicas/genética , Proteína Supressora de Tumor p53/genética , Proteínas ras/genética , Adulto , Estudos de Casos e Controles , Neoplasias Cerebelares/diagnóstico , Códon de Terminação , Glioblastoma/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , PrognósticoRESUMO
We report the case of an orbital optic nerve gangliogoma in a 55-year-old woman with neurofibromatosis type 1 (NF1). Clinical course neuroimaging findings, pathology, and treatment options of gangliogloma are discussed and contrasted with pilocytic astrocytomas of the optic nerve, a much more frequent visual pathway neoplasm in NF1 patients.
