{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T22:41:45Z","timestamp":1791412905740,"version":"4.3.3"},"reference-count":31,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2025,7,16]],"date-time":"2025-07-16T00:00:00Z","timestamp":1752624000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry of Health, with RICERCA CORRENTE 2024","award":["MSALRC24"],"award-info":[{"award-number":["MSALRC24"]}]},{"name":"Italian Ministry of Health, with RICERCA CORRENTE 2024","award":["UAUT 2020\/12"],"award-info":[{"award-number":["UAUT 2020\/12"]}]},{"name":"5 \u00d7 1000 PROJECT 2018","award":["MSALRC24"],"award-info":[{"award-number":["MSALRC24"]}]},{"name":"5 \u00d7 1000 PROJECT 2018","award":["UAUT 2020\/12"],"award-info":[{"award-number":["UAUT 2020\/12"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.3390\/ijms26146848","type":"journal-article","created":{"date-parts":[[2025,7,16]],"date-time":"2025-07-16T15:48:22Z","timestamp":1752680902000},"page":"6848","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Genetic Landscape of a Pleural Mesothelioma in a Child Affected by NF2-Related Schwannomatosis"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3698-9319","authenticated-orcid":false,"given":"Marzia","family":"Ognibene","sequence":"first","affiliation":[{"name":"U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianluca","family":"Piccolo","sequence":"additional","affiliation":[{"name":"U.O.S.D. Neuro Oncologia, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy"},{"name":"Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili, Universit\u00e0 Degli Studi di Genova, 16132 Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7277-4767","authenticated-orcid":false,"given":"Marco","family":"Crocco","sequence":"additional","affiliation":[{"name":"U.O.C. Gastroenterologia Pediatrica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Di Duca","sequence":"additional","affiliation":[{"name":"U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4648-4384","authenticated-orcid":false,"given":"Antonio","family":"Verrico","sequence":"additional","affiliation":[{"name":"U.O.S.D. Neuro Oncologia, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Molteni","sequence":"additional","affiliation":[{"name":"U.O.S.D. Neuro Oncologia, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy"},{"name":"Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili, Universit\u00e0 Degli Studi di Genova, 16132 Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferruccio","family":"Romano","sequence":"additional","affiliation":[{"name":"U.O.C. Genetica Clinica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3097-0388","authenticated-orcid":false,"given":"Valeria","family":"Capra","sequence":"additional","affiliation":[{"name":"U.O.C. Genetica Clinica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Rossi","sequence":"additional","affiliation":[{"name":"U.O.C. Neuroradiologia, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9744-5222","authenticated-orcid":false,"given":"Federico","family":"Zara","sequence":"additional","affiliation":[{"name":"U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8498-3750","authenticated-orcid":false,"given":"Patrizia","family":"De Marco","sequence":"additional","affiliation":[{"name":"U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Milanaccio","sequence":"additional","affiliation":[{"name":"U.O.S.D. Neuro Oncologia, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.ejca.2020.09.011","article-title":"Mesothelioma in children and adolescents: The European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT) contribution","volume":"140","author":"Orbach","year":"2020","journal-title":"Eur. J. Cancer"},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Abbott, D.M., Bortolotto, C., Benvenuti, S., Lancia, A., Filippi, A.R., and Stella, G.M. (2020). Malignant Pleural Mesothelioma: Genetic and Microenviromental Heterogeneity as an Unexpected Reading Frame and Therapeutic Challenge. 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