Origins of biallelic inactivation of NF2 in neurofibromatosis type 2.

ABSTRACT:

Background

Elucidating the mechanism by which biallelic inactivation evolved could provide a mechanistic understanding for NF2 tumorigenesis and also a rationale for clinical management.

Methods

A cohort of 60 NF2 patients was recruited. Next-generation sequencing of tumor and paired control samples was used to explore how NF2 mutations evolve in determining the clinical phenotypes.

Results

In total, 60 blood samples (one from each patient) and 61 (from 35 patients) NF2-associated tumors were collected. Next-generation sequencing of the blood samples detected "first hit" NF2 mutation in 35/60 donors (58.3%), 82.9% of which (29/35) bear heterozygous germline mutations, and 17.1% (6/35) of which are mosaics with variable allelic frequency (VAF). While a number of NF2 pa

SUBMITTER: Xue L 

PROVIDER: S-EPMC9159453 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature