Mapping the Somatic Mutation Landscape of Familial NF2-Related Schwannomatosis using Whole-Exome Sequencing.

ABSTRACT: Background: Neurofibromatosis type 2 (NF2), currently more accurately named NF2-related schwannomatosis (NF2-SWN), is classified as a multiple tumor syndrome, caused by impaired expression of the merlin protein. Approximately 50% of affected individuals inherit a germline mutation from their parents, while reports on the somatic mutation landscape of other genes are infrequent. Aim: To further explore the somatic mutations of NF2-SWN and provide a theoretical basis for the treatment of NF2-SWN. Design: A retrospective study was conducted to follow up on NF2-SWN patients who underwent surgical treatment in the Department of Neurosurgery of Xiangya Hospital. Whole-exome sequencing (WES) was performed on patients with a clear family hist

SUBMITTER: Luo F 

PROVIDER: S-EPMC12595425 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature