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Manifestaciones neurológicas de la enfermedad de von Hippel-Lindau
John A Butman1, W Marston Linehan, Russell R Lonser
1Diagnostic Radiology Department, The Clinical Center of the National Institutes of Health, Bethesda, Maryland 20892-1414, USA.
JAMA
|September 19, 2008
Resumen
La enfermedad de Von Hippel-Lindau (VHL), causada por mutaciones del gen VHL, conduce a tumores en el cerebro y los órganos. La comprensión del desarrollo de la lesión VHL y la historia natural es clave para estrategias de manejo distintas.
Área de la Ciencia:
- Genética y Oncología.
- Neuro-oncología y neuro-oncología.
Sus antecedentes:
- La enfermedad de Von Hippel-Lindau (VHL) es un trastorno hereditario caracterizado por mutaciones de la línea germinal en el gen supresor de tumores VHL.
- Este defecto genético predispone a las personas a desarrollar varios tumores y quistes en todo el cuerpo, incluido el sistema nervioso central y las vísceras.
Objetivo del estudio:
- Investigar la base molecular y la historia natural de las lesiones del sistema nervioso central asociadas a la VHL.
- Diferenciar la patobiología y el curso clínico de los hemangioblastomas y los tumores del saco endolinfático (ELST) en pacientes con VHL.
- Informar estrategias de manejo distintas para las manifestaciones neurológicas de la enfermedad VHL.
Principales métodos:
- Revisión de recientes investigaciones biológicas moleculares en lesiones del sistema nervioso central asociadas con VHL.
- Análisis de datos emergentes de los protocolos de imágenes en serie y de vigilancia clínica.
- Análisis comparativo de la patobiología y el curso clínico entre hemangioblastomas y ELSTs.
Principales resultados:
- Las investigaciones moleculares proporcionan nuevos conocimientos sobre el origen y el desarrollo de las lesiones del SNC asociadas a la VHL.
- Las imágenes en serie y los datos de vigilancia aclaran la historia natural de estas lesiones.
- Los hemangioblastomas y los ELST presentan una patobiología y un curso clínico diferentes.
Conclusiones:
- Las estrategias de manejo óptimo para las manifestaciones neurológicas de la enfermedad VHL deben tener en cuenta las características distintivas de los hemangioblastomas y los ELST.
- Comprender la biología específica de cada tipo de tumor es crucial para la atención efectiva del paciente en la enfermedad de VHL.
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