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      What are the implications in individuals with unilateral vestibular schwannoma and other neurogenic tumors?

      Journal of neurosurgery

      Adolescent, Adult, Age Factors, Child, Child, Preschool, Cohort Studies, DNA Mutational Analysis, Databases, Factual, Female, Genes, Neurofibromatosis 2, physiology, Genetic Predisposition to Disease, Humans, Infant, Male, Middle Aged, Mosaicism, Neuroma, Acoustic, genetics, pathology, Pedigree

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          Abstract

          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. 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. 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. 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.

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          18173316
          10.3171/JNS/2008/108/01/0092

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