Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 gene.

ABSTRACT:

Objectives/hypothesis

Unilateral vestibular schwannoma (VS) occurs with a lifetime risk of around 1 in 1,000 and is due to inactivation of the NF2 gene, either somatically or from a constitutional mutation. It has been postulated that familial occurrence of unilateral VS occurs more frequently than by chance, but no causal mechanism has been confirmed.

Study design

Retrospective database analysis.

Methods

The likelihood of chance occurrence of unilateral VS, or occurring in the context of neurofibromatosis type 2 (NF2), was assessed using national UK audit data and data from the national NF2 database. Families with familial unilateral VS (occurrence in first- and second-degree relatives) were assessed for constitutional NF2 and LZTR1 genetic variants, and where possib

SUBMITTER: Evans DG 

PROVIDER: S-EPMC6563429 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature