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        "resumen" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">El Glioblastoma multiforme con agregaci&#243;n familiar es poco frecuente&#44; asoci&#225;ndose la mayor parte de los casos a s&#237;ndromes gen&#233;ticos conocidos &#40;como el s&#237;ndrome de Turcot&#44; el s&#237;ndrome de Li-Fraumeni&#44; la neurofibromatosis&#44; etc&#41;&#46; Sin embargo&#44; existen otros gliomas familiares no asociados a estos cuadros sindr&#243;micos que&#44; aunque menos frecuentes&#44; han mostrado unas caracter&#237;sticas etiol&#243;gicas y cl&#237;nicas diferentes a las de los gliomas espor&#225;dicos&#46;</p><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Por otra parte&#44; hasta un 10&#37; de los gliomas se consideran verdaderamente multic&#233;ntricos&#44; apareciendo de modo s&#237;ncrono o met&#225;crono&#46; Los glioblastomas de aparici&#243;n met&#225;crona han mostrado en algunos estudios un mejor pron&#243;stico&#44; habi&#233;ndose encontrado trastornos gen&#233;ticos diferentes en los tumores de un mismo paciente&#46;</p><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Los gliomas familiares con presentaci&#243;n met&#225;crona son excepcionales&#46; Estos tumores presentan unas implicaciones terap&#233;uticas especiales por la limitaci&#243;n del tratamiento radioter&#225;pico tras el tratamiento inicial&#46; Aunque se han identificado mutaciones variadas en estos pacientes&#44; la identificaci&#243;n precisa de dichos trastornos se basar&#225; en el estudio de su sustrato gen&#233;tico espec&#237;fico&#46; Presentamos un caso cl&#237;nico que combina ambas peculiaridades revisando las caracter&#237;sticas de esta patolog&#237;a&#46;</p>"
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        "titulo" => "Summary"
        "resumen" => "<p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Familial glioblastoma multiforme is a rather uncommon entity&#44; being in most cases associated to known genetic disorders &#40;as Turcot syndrome&#44; Li-Fraumeni syndrome&#44; neurofibromatosis&#44; etc&#46;&#41;&#46; However&#44; familial gliomas have also been described&#44; although less frequently&#44; independently of these genetic syndromes showing some special features regarding its etiology and clinical manifestations&#46;</p><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Less than 10&#37; of gliomas may be considered as true multicentric tumours either synchronous or metachronous in clinical presentation&#46; Metachronous glioblastomas have been associated to better prognosis in some studies&#44; with genetic studies having found clear differences among the tumors within same patients&#46;</p><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Familial glioblastoma with metachronous presentation is an exceptional disorder&#46; These tumors show special therapeutic implications due to the limitations of radiotherapy once the patient has already irradiated&#46; 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&#46; We present a clinical report on a patient harbouring a familial and metachronous glioblastoma&#46; The main aspects of this entity are reviwed&#46;</p>"
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Vol. 17. Núm. 4.
Páginas 340-346 (enero 2005)
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Vol. 17. Núm. 4.
Páginas 340-346 (enero 2005)
Glioblastoma familiar múltiple de aparición metácrona: implicaciones etiopatogénicas y pronósticas
Familiar glioblastoma presentig as a true multicentric tumor: etiopathogenic and pronostic features
Visitas
1605
B. Iza
, O. Mateo-Sierra, F. Ruiz-Juretszke, J. Garbizu, R. Carrillo
Servicio de Neurocirugía, Hospital General Universitario Gregorio Marañón. Madrid
J. Guzmán de Villoria*
* Servicio de Neurorradiología, Hospital General Universitario Gregorio Marañón. Madrid
Este artículo ha recibido
Información del artículo
Resumen

El Glioblastoma multiforme con agregación familiar es poco frecuente, asociándose la mayor parte de los casos a síndromes genéticos conocidos (como el síndrome de Turcot, el síndrome de Li-Fraumeni, la neurofibromatosis, etc). Sin embargo, existen otros gliomas familiares no asociados a estos cuadros sindrómicos que, aunque menos frecuentes, han mostrado unas características etiológicas y clínicas diferentes a las de los gliomas esporádicos.

Por otra parte, hasta un 10% de los gliomas se consideran verdaderamente multicéntricos, apareciendo de modo síncrono o metácrono. Los glioblastomas de aparición metácrona han mostrado en algunos estudios un mejor pronóstico, habiéndose encontrado trastornos genéticos diferentes en los tumores de un mismo paciente.

Los gliomas familiares con presentación metácrona son excepcionales. Estos tumores presentan unas implicaciones terapéuticas especiales por la limitación del tratamiento radioterápico tras el tratamiento inicial. Aunque se han identificado mutaciones variadas en estos pacientes, la identificación precisa de dichos trastornos se basará en el estudio de su sustrato genético específico. Presentamos un caso clínico que combina ambas peculiaridades revisando las características de esta patología.

Palabras clave:
Glioma multicéntrico
Glioma familiar
Glioblastoma metácrono
Glioblastoma multiforme
Summary

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 reviwed.

Key words:
Multicentric glioma
Familiar glioma
Metachronous glioblastoma
Glioblastoma multiforme

Artículo

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