Tumor rabdoide teratoide atípico del sistema nervioso central con INI1 positivo : presentación de un caso pediátrico.
Central nervous system atypical teratoid/ rhabdoid tumor with retained INI-1: a pediatric case
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Se presenta el caso de una paciente de 11 años de edad con diagnóstico de tumor rabdoide teratoide atípico del sistema nervioso central, con retención de la expresión del marcador INI 1, negatividad del marcador BRG1 y estudios de genética sin ninguna alteración correspondiente al cromosoma 22. Se logró una resección completa de la lesión, con posterior consolidación del tratamiento con quimioterapia y radioterapia y, a la fecha, en remisión de la enfermedad. La relevancia de este caso es la positividad del INI-1 en la inmunohistoquímica, que en el contexto de un tumor rabdoide teratoide atípico, no descarta esta entidad patológica, siendo útil la realización del marcador BRG1 para establecer el diagnóstico.
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