Abstract
We describe a young patient with typical neurofibromatosis type 1 on the basis of a mutation in the NF1 gene, who was diagnosed with a unilateral vestibular schwannoma caused by a somatic mutation in the NF2 gene. This combination has not been described before. This report highlights the requirement for ongoing surveillance regarding other manifestations of neurofibromatosis type 2 in such patients, as mosaicism cannot be ruled out. In addition to the NF1 mutation, the NF2 mutation should be considered in such cases if pre-implantation genetic diagnosis in undertaken.
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Huq, A., Kentwell, M., Tirimacco, A. et al. Vestibular schwannoma in a patient with neurofibromatosis type 1: clinical report and literature review. Familial Cancer 14, 157–160 (2015). https://doi.org/10.1007/s10689-014-9763-y
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DOI: https://doi.org/10.1007/s10689-014-9763-y