RESUMO
Pilomyxoid astrocytoma (PMA) is a rare brain tumour generally located in the chiasmatic-hypothalamic region. In comparison to pilocytic astrocytoma, PMA has distinct histopathological features, aggressive clinical behaviour, a high recurrence rate, and early cerebrospinal fluid dissemination. Only 14 cases of PMA have been reported in the spinal cord since its pathological description in 1999. Here, we report the 15th case in a 3-year-old girl who was treated with chemoradiotherapy and followed up for 5 years. In this report, we also present a review of spinal PMA including treatment options and prognosis.
Assuntos
Astrocitoma/diagnóstico por imagem , Astrocitoma/patologia , Neoplasias da Medula Espinal/diagnóstico por imagem , Neoplasias da Medula Espinal/patologia , Astrocitoma/terapia , Quimiorradioterapia Adjuvante , Pré-Escolar , Fracionamento da Dose de Radiação , Feminino , Humanos , Imageamento por Ressonância Magnética , Recidiva Local de Neoplasia/radioterapia , Terapia de Salvação , Neoplasias da Medula Espinal/terapiaRESUMO
Turcot syndrome (TS) is a rare hereditary disorder clinically characterized by the occurrence of primary tumors of the colon and the central nervous system (CNS). Here we present the case of an 11-year-old boy with a synchronous clinical presentation of both glioblastoma multiforme (GBM) and colonic adenocarcinoma. A molecular genetic study revealed microsatellite instability in the DNA mismatch repair (MMR) gene. This patient ultimately survived for 13 months after clinical presentation. Based on this case study, the synchronous presentation of glioblastoma multiforme and adenocarcinoma of the colon might suggest a shorter survival rate for patients with Turcot syndrome. A literature review complements this paper.