Article
Vestibular schwannoma in a patient with neurofibromatosis type 1: clinical report and literature review.
Familial cancer - 1 Mar 2015
Huq Aamira, Kentwell Maira, Tirimacco Amanda, Rossini Jacqueline, Rawlings Lesley, Winship Ingrid
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
