RESUMO

Central nervous system high-grade neuroepithelial tumor with MN1 alteration (CNS HGNET-MN1) is a rare recently described entity. Fourteen CNS HGNET-MN1 patients were identified using genome-wide methylation arrays/RT-PCR across seven institutions. All patients had surgery (gross total resection: 10; subtotal resection: four) as initial management followed by observation alone in three patients, followed by radiotherapy in eight patients (focal: five; craniospinal: two; CyberKnife: one) and systemic chemotherapy in three patients. Seven patients relapsed; five local and two metastatic, despite adjuvant radiotherapy, of which three died. Treatment of CNS HGNET-MN1 remains a major treatment challenge despite aggressive surgical resections and upfront radiotherapy, warranting new approaches to this rare malignancy.

Assuntos

Neoplasias do Sistema Nervoso Central/patologia , Mutação , Neoplasias Neuroepiteliomatosas/patologia , Transativadores/genética , Proteínas Supressoras de Tumor/genética , Adolescente , Adulto , Neoplasias do Sistema Nervoso Central/genética , Neoplasias do Sistema Nervoso Central/terapia , Criança , Pré-Escolar , Terapia Combinada , Feminino , Seguimentos , Humanos , Masculino , Neoplasias Neuroepiteliomatosas/genética , Neoplasias Neuroepiteliomatosas/terapia , Prognóstico , Estudos Retrospectivos , Adulto Jovem