RESUMEN
Aberrant expression of stem cell-related genes in tumors may confer more primitive and aggressive traits affecting clinical outcome. Here, we investigated expression and prognostic value of the neural stem cell marker CD133, as well as of the pluripotency genes LIN28 and OCT4 in 37 samples of pediatric medulloblastoma, the most common and challenging type of embryonal tumor. While most medulloblastoma samples expressed CD133 and LIN28, OCT4 expression was found to be more sporadic, with detectable levels occurring in 48% of tumors. Expression levels of OCT4, but not CD133 or LIN28, were significantly correlated with shorter survival (P ≤ 0.0001). Median survival time of patients with tumors hyperexpressing OCT4 and tumors displaying low/undetectable OCT4 expression were 6 and 153 months, respectively. More importantly, when patients were clinically stratified according to their risk of tumor recurrence, positive OCT4 expression in primary tumor specimens could discriminate patients classified as average risk but which further deceased within 5 years of diagnosis (median survival time of 28 months), a poor clinical outcome typical of high risk patients. Our findings reveal a previously unknown prognostic value for OCT4 expression status in medulloblastoma, which might be used as a further indicator of poor survival and aid postoperative treatment selection, with a particular potential benefit for clinically average risk patients.
Asunto(s)
Neoplasias Encefálicas/genética , Regulación Neoplásica de la Expresión Génica/genética , Regulación Neoplásica de la Expresión Génica/fisiología , Meduloblastoma/genética , Factor 3 de Transcripción de Unión a Octámeros/biosíntesis , Células Madre/fisiología , Antígeno AC133 , Adolescente , Antígenos CD/biosíntesis , Antígenos CD/genética , Malformación de Arnold-Chiari/genética , Biomarcadores , Neoplasias Encefálicas/tratamiento farmacológico , Neoplasias Encefálicas/patología , Niño , Preescolar , Femenino , Glicoproteínas/biosíntesis , Glicoproteínas/genética , Humanos , Estimación de Kaplan-Meier , Masculino , Meduloblastoma/tratamiento farmacológico , Meduloblastoma/patología , Factor 3 de Transcripción de Unión a Octámeros/genética , Péptidos/genética , Valor Predictivo de las Pruebas , Pronóstico , Proteínas de Unión al ARN/biosíntesis , Proteínas de Unión al ARN/genética , Reacción en Cadena en Tiempo Real de la Polimerasa , Medición de Riesgo , SobrevidaRESUMEN
Säo analisados os resultados clínicos e radiolóicos de 12 pais e 40 irmäos de 10 pacientes operados de impressäo basilar e malformaçäo de Arnold-Chiari. É feita revisäo de literatura sobre a ocorrência familial da impressäo basilar
Asunto(s)
Recién Nacido , Lactante , Preescolar , Niño , Adolescente , Adulto , Persona de Mediana Edad , Humanos , Masculino , Femenino , Malformación de Arnold-Chiari/genética , Platibasia/genética , Examen Neurológico , Apófisis OdontoidesRESUMEN
The authors studied nine members of the same family; two among them received surgical treatment for basilar impression and Arnold-Chiari malformation. In the other members of the family, several signs and symptoms of central nervous disease were observed. All patients had the apex of the odontoid apophysis above McGregor's line, 4 mm in the case 9, and 10 mm or more in the others.