International journal of molecular sciences · 2025
Genetic Landscape of a Pleural Mesothelioma in a Child Affected by NF2-Related Schwannomatosis.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Ognibene Marzia, Piccolo Gianluca, Crocco Marco, Di Duca Marco, Verrico Antonio, Molteni Marta, Romano Ferruccio, Capra Valeria, Rossi Andrea, Zara Federico, De Marco Patrizia, Milanaccio Claudia
Аннотация
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.