Glioblastoma familiar múltiple de aparición metácrona: implicaciones etiopatogénicas y pronósticas

Abstract

Familial glioblastoma multiforme is a rather uncommon entity, being in most cases associated to known genetic disorders (as Turcot syndrome, Li-Fraumeni syndrome, neurofibromatosis, etc.). However, familial gliomas have also been described, although less frequently, independently of these genetic syndromes showing some special features regarding its etiology and clinical manifestations. Less than 10% of gliomas may be considered as true multicentric tumours either synchronous or metachronous in clinical presentation. Metachronous glioblastomas have been associated to better prognosis in some studies, with genetic studies having found clear differences among the tumors within same patients. Familial glioblastoma with metachronous presentation is an exceptional disorder. These tumors show special therapeutic implications due to the limitations of radiotherapy once the patient has already irradiated. A variety of non-specific mutations have been found in these patients but true characterization of this disorder remains unclear and will be based on further genetic studies. We present a clinical report on a patient harbouring a familial and metachronous glioblastoma. The main aspects of this entity are reviewed.