VGLL fusions define a new class of intraparenchymal central nervous system schwannoma.

ABSTRACT:

Background

Intracerebral schwannomas are rare tumors resembling their peripheral nerve sheath counterparts but localized in the central nervous system (CNS). They are not classified as a separate tumor type in the 2021 World Health Organization classification. This study aimed to compile and characterize these rare neoplasms morphologically and molecularly.

Methods

We analyzed 20 tumor samples by histology, RNA next-generation sequencing, DNA-methylation profiling, copy number analyses, and single-nucleus RNA sequencing (snRNA-seq). Clinical data, including age, sex, and disease progression, were collected. Magnetic resonance imaging (MRI) series were included when available.

Results

All cases with tissue available for histology review (n = 13) were morphologically co

SUBMITTER: Schmid S 

PROVIDER: S-EPMC12083230 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature