Genetic Alterations in Patients with <i>NF2</i>-Related Schwannomatosis and Sporadic Vestibular Schwannomas.

ABSTRACT: Background: Unilateral (uVS) and bilateral vestibular schwannoma (bVS) are distinct disease types, yet share tumorigenic features. This study examined causative genetic alterations in three groups: patients with NF2-related schwannomatosis (NF2), young patients with uVS (≤30 years), and older patients with uVS (≥40 years). Methods: Lymphocyte and vestibular schwannoma DNA was genetically analyzed. Outcomes included gene involvement, pathogenicity classification, variant type, effect, and location, and loss of heterozygosity (LOH) of chromosome 22. Results: Among 93 patients, 17% had NF2, 39% were ≤30 years with uVS, and 44% were ≥40 years with uVS. In all patients with NF2 (100%), two or more hits were detected in the tumor DNA, whereas patients with uVS had a s

SUBMITTER: Douwes JPJ 

PROVIDER: S-EPMC11816073 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature