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enfermedad de von Hippel-Lindau.
Russell R Lonser1, Gladys M Glenn, McClellan Walther
1Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-1414, USA. lonserr@ninds.nih.gov
Lancet (London, England)
|June 20, 2003
Resumen
La enfermedad de Von Hippel-Lindau es un raro síndrome de cáncer hereditario causado por una mutación en el gen VHL. Aumenta el riesgo de varios tumores, lo que requiere un manejo multidisciplinario para los individuos afectados.
Área de la Ciencia:
- Genética La genética.
- Oncología Oncología.
- Síndromes de cáncer hereditario Síndromes de cáncer hereditario.
Sus antecedentes:
- La enfermedad de Von Hippel-Lindau (VHL) es un trastorno autosómico dominante.
- Se deriva de mutaciones de la línea germinal en el gen supresor de tumores VHL en el cromosoma 3p.
- La enfermedad de VHL afecta a múltiples sistemas de órganos, aumentando el riesgo de cáncer.
Objetivo del estudio:
- Para proporcionar una visión general completa de la enfermedad de von Hippel-Lindau.
- Para detallar las manifestaciones clínicas y las estrategias de manejo.
- Para esbozar las opciones actuales de tratamiento para los tumores asociados a la VHL.
Principales métodos:
- Revisión de la literatura sobre los aspectos clínicos, el manejo y el tratamiento.
- Síntesis de información sobre la epidemiología y la genética de la enfermedad VHL.
- Visión general de los criterios de diagnóstico y los protocolos de vigilancia.
Principales resultados:
- La enfermedad VHL afecta aproximadamente a 1 de cada 36.000 nacidos vivos.
- Las personas están predispuestas a tumores benignos y malignos en el SNC, los riñones, las glándulas suprarrenales, el páncreas y los órganos reproductivos.
- El manejo requiere un enfoque multidisciplinario debido a la diversidad de los tumores.
Conclusiones:
- La enfermedad de Von Hippel-Lindau es un síndrome de cáncer hereditario significativo.
- El diagnóstico precoz y la atención multidisciplinaria son cruciales para el manejo de la enfermedad VHL.
- La investigación en curso tiene como objetivo mejorar los resultados del tratamiento para las neoplasias asociadas a la VHL.
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