title: Vestibular schwannoma in a patient with neurofibromatosis type 1: clinical report and literature review.
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.
authors.affiliation: Clinical Genetics and Familial Cancer Centre, The Royal Melbourne Hospital, University of Melbourne, Parkville, Australia, aamira.huq@mh.org.au.
authors.forename: Aamira
authors.initials: A
authors.lastname: Huq
authors.forename: Maira
authors.initials: M
authors.lastname: Kentwell
authors.forename: Amanda
authors.initials: A
authors.lastname: Tirimacco
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Rossini
authors.forename: Lesley
authors.initials: L
authors.lastname: Rawlings
authors.forename: Ingrid
authors.initials: I
authors.lastname: Winship
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D016514:Genes, Neurofibromatosis 1; D016515:Genes, Neurofibromatosis 2; D006801:Humans; D008297:Male; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000235:genetics*; D009464:Neuroma, Acoustic / Q000235:genetics*