Vestibular schwannoma in a patient with neurofibromatosis type 1: clinical report and literature review

Fam Cancer. 2015 Mar;14(1):157-60. doi: 10.1007/s10689-014-9763-y.

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Genes, Neurofibromatosis 1*
  • Genes, Neurofibromatosis 2*
  • Humans
  • Male
  • Mutation
  • Neurofibromatosis 1 / genetics*
  • Neuroma, Acoustic / genetics*