# Genetic Landscape of a Pleural Mesothelioma in a Child Affected by NF2-Related Schwannomatosis

## TL;DR

This paper describes the first case of pleural mesothelioma in a child with NF2-related schwannomatosis, revealing unique genetic differences compared to adult cases.

## Contribution

The study presents the first pediatric case of NF2-driven pleural mesothelioma with no asbestos exposure and identifies distinct genomic features.

## Key findings

- The child had a germline NF2 mutation and atypical chromosomal aberrations in the tumor.
- Genomic analysis revealed a different signature in pediatric mesothelioma compared to adult cases.
- No asbestos exposure was involved, suggesting alternative mechanisms for tumor development.

## Abstract

We report the first case of pleural mesothelioma (PM) occurring in a child affected by NF2-related schwannomatosis (NF2-SWN) and without any history of environmental exposure to asbestos. Mesothelioma is a rare secondary tumor in brain cancer patients and the association with NF2-SWN has been described only in a few anecdotal cases and never in the pediatric field. NF2-SWN is an autosomal dominant disease caused by inactivating germline mutations of the NF2 tumor suppressor gene, one of the most common mutations associated with human primary mesothelioma too. By MLPA assay, array-CGH analysis, and NGS on blood and tumor DNA, we determined the mutation profile of this rare NF2-driven PM and we identified several atypical chromosomal aberrations in tumor cells, suggesting a different genomic signature between pediatric and adult mesothelioma.