# Central nervous system schwannoma, VGLL-fused (EWSR1::VGLL1 fusion) with neuroblastoma-like cell dense areas in the frontal lobe of a young man with schwannomatosis due to a germline LZTR1 mutation

## TL;DR

A young man with a brain tumor caused by a rare gene fusion and a germline mutation linked to schwannomatosis is reported.

## Contribution

The discovery of an EWSR1::VGLL1 fusion and germline LZTR1 mutation in a CNS schwannoma with mixed histology.

## Key findings

- The tumor had an EWSR1::VGLL1 fusion involving the full VGLL1 coding region.
- The tumor showed features of both schwannoma and neuroblastoma.
- A germline LZTR1 mutation was found, indicating schwannomatosis.

## Abstract

We report a central nervous system schwannoma, VGLL-fused in a
young man’s frontal lobe. Somatic abnormalities included an
EWSR1::VGLL1 fusion, which incorporated the entire
translated region of VGLL1, but excluded most domains of
EWSR1. The tumor histologically merged with the brain, and
showed both schwannoma-like and neuroblastoma-like areas. A germline
LZTR1 mutation was subsequently identified, implying the
patient suffered from schwannomatosis.