What are the implications in individuals with unilateral vestibular schwannoma and other neurogenic tumors?
J Neurosurg
; 108(1): 92-6, 2008 Jan.
Article
em En
| MEDLINE
| ID: mdl-18173316
ABSTRACT
OBJECTIVES:
Individuals who develop a unilateral vestibular schwannoma (VS) and other neurogenic tumors are at high risk of having the inherited condition neurofibromatosis Type 2 (NF2). The risk of bilateral disease and transmission risk to offspring are important in surgical planning and counseling. The authors have attempted to resolve these risks.METHODS:
A large NF2 dataset was interrogated for individuals who had initially presented with a unilateral VS and other tumors before developing bilateral disease, to assess the contralateral and offspring risks.RESULTS:
Ninety-six patients with a unilateral VS and additional neurogenic tumors had a bilaterality rate of 48% at 20 years in those initially diagnosed when > 18 years of age and 82% if presenting earlier. Constitutional NF2 mutations were found in blood in 25 (27%) of 92, but 13 (76%) of 17 patients presenting with unilateral VS at < or = 18 years of age. Tumor analysis suggests that the vast majority of the remainder are mosaic for an NF2 mutation.CONCLUSIONS:
Patients with unilateral VS and other NF2-related tumors who fulfill Manchester criteria have a high risk of developing a contralateral tumor, especially if presenting in childhood. Transmission risks are reduced for offspring, particularly in the older patients who are likely to be mosaic.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Neuroma Acústico
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Genes da Neurofibromatose 2
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Mosaicismo
Tipo de estudo:
Etiology_studies
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Incidence_studies
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Observational_studies
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Risk_factors_studies
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
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Middle aged
Idioma:
En
Revista:
J Neurosurg
Ano de publicação:
2008
Tipo de documento:
Article
País de afiliação:
Reino Unido