A mechanistic mathematical model of initiation and malignant transformation in sporadic vestibular schwannoma.

ABSTRACT:

Background

A vestibular schwannoma (VS) is a relatively rare, benign tumour of the eighth cranial nerve, often involving alterations to the gene NF2. Previous mathematical models of schwannoma incidence have not attempted to account for alterations in specific genes, and could not distinguish between nonsense mutations and loss of heterozygosity (LOH).

Methods

Here, we present a mechanistic approach to modelling initiation and malignant transformation in schwannoma. Each parameter is associated with a specific gene or mechanism operative in Schwann cells, and can be determined by combining incidence data with empirical frequencies of pathogenic variants and LOH.

Results

This results in new estimates for the base-pair mutation rate u = 4.48 × 10^-10 and the r

SUBMITTER: Paterson C 

PROVIDER: S-EPMC9643471 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature