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http://hdl.handle.net/2445/200047
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DC Field | Value | Language |
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dc.contributor.author | Magallón Lorenz, Miriam | - |
dc.contributor.author | Terribas, Ernest | - |
dc.contributor.author | Ortega Bertran, Sara | - |
dc.contributor.author | Creus Bachiller, Edgar | - |
dc.contributor.author | Fernández, Marco | - |
dc.contributor.author | Requena, Gerard | - |
dc.contributor.author | Rosas, Inma | - |
dc.contributor.author | Mazuelas, Helena | - |
dc.contributor.author | Uriarte Arrazola, Itziar | - |
dc.contributor.author | Negro, Alex | - |
dc.contributor.author | Lausová, Tereza | - |
dc.contributor.author | Castellanos, Elisabeth | - |
dc.contributor.author | Blanco, Ignacio | - |
dc.contributor.author | Devries, George | - |
dc.contributor.author | Kawashima, Hiroyuki | - |
dc.contributor.author | Legius, Eric | - |
dc.contributor.author | Brems, Hilde | - |
dc.contributor.author | Mautner, Viktor | - |
dc.contributor.author | Kluwe, Lan | - |
dc.contributor.author | Ratner, Nancy | - |
dc.contributor.author | Wallace, Margaret | - |
dc.contributor.author | Fernández-Rodríguez, Juana | - |
dc.contributor.author | Lázaro García, Conxi | - |
dc.contributor.author | Fletcher, Jonathan A. | - |
dc.contributor.author | Reuss, David | - |
dc.contributor.author | Carrió, Meritxell | - |
dc.contributor.author | Gel, Bernat | - |
dc.contributor.author | Serra Arenas, Eduard | - |
dc.date.accessioned | 2023-06-28T17:15:59Z | - |
dc.date.available | 2023-06-28T17:15:59Z | - |
dc.date.issued | 2023-02-01 | - |
dc.identifier.issn | 2589-0042 | - |
dc.identifier.uri | http://hdl.handle.net/2445/200047 | - |
dc.description.abstract | Malignant peripheral nerve sheath tumors (MPNSTs) are soft-tissue sarcomas of the peripheral nervous system that develop either sporadically or in the context of neurofibromatosis type 1 (NF1). MPNST diagnosis can be challenging and treatment outcomes are poor. We present here a resource consisting of the genomic characterization of 9 widely used human MPNST cell lines for their use in translational research. NF1-related cell lines recapitulated primary MPNST copy number profiles, exhibited NF1 , CDKN2A , and SUZ12/EED tumor suppres-sor gene (TSG) inactivation, and presented no gain-of-function mutations. In contrast, sporadic cell lines collectively displayed different TSG inactivation patterns and presented kinase-activating mutations, fusion genes, altered muta-tional frequencies and COSMIC signatures, and different methylome-based clas-sifications. Cell lines re-classified as melanomas and other sarcomas exhibited a different drug-treatment response. Deep genomic analysis, methylome-based classification, and cell-identity marker expression, challenged the identity of common MPNST cell lines, opening an opportunity to revise MPNST differential diagnosis. | - |
dc.format.extent | 23 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Elsevier BV | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1016/j.isci.2023.106096 | - |
dc.relation.ispartof | iScience, 2023, vol. 26, num. 2, p. 106096 | - |
dc.relation.uri | https://doi.org/10.1016/j.isci.2023.106096 | - |
dc.rights | cc by (c) Magallón Lorenz, Miriam et al., 2023 | - |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | * |
dc.source | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) | - |
dc.subject.classification | Neurofibromatosi | - |
dc.subject.classification | Genòmica | - |
dc.subject.classification | Càncer | - |
dc.subject.other | Neurofibromatosis | - |
dc.subject.other | Genomics | - |
dc.subject.other | Cancer | - |
dc.title | Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.date.updated | 2023-06-20T14:45:52Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 36818284 | - |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
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PIIS2589004223001736.pdf | 5.33 MB | Adobe PDF | View/Open |
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