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Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis

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...

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Main Authors: Magallón-Lorenz, Míriam (Author) , Terribas, Ernest (Author) , Ortega-Bertran, Sara (Author) , Creus-Bachiller, Edgar (Author) , Fernández, Marco (Author) , Requena, Gerard (Author) , Rosas, Inma (Author) , Mazuelas, Helena (Author) , Uriarte-Arrazola, Itziar (Author) , Negro, Alex (Author) , Lausová, Tereza (Author) , Castellanos, Elisabeth (Author) , Blanco, Ignacio (Author) , DeVries, George (Author) , Kawashima, Hiroyuki (Author) , Legius, Eric (Author) , Brems, Hilde (Author) , Mautner, Viktor (Author) , Kluwe, Lan (Author) , Ratner, Nancy (Author) , Wallace, Margaret (Author) , Fernández-Rodriguez, Juana (Author) , Lázaro, Conxi (Author) , Fletcher, Jonathan A. (Author) , Reuss, David (Author) , Carrió, Meritxell (Author) , Gel, Bernat (Author) , Serra, Eduard (Author)
Format: Article (Journal)
Language:English
Published: 9 February 2023
In: iScience
Year: 2023, Volume: 26, Issue: 2, Pages: 1-23
ISSN:2589-0042
DOI:10.1016/j.isci.2023.106096
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.isci.2023.106096
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S2589004223001736
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Author Notes:Miriam Magallón-Lorenz, Ernest Terribas, Sara Ortega-Bertran, Edgar Creus-Bachiller, Marco Fernández, Gerard Requena, Inma Rosas, Helena Mazuelas, Itziar Uriarte-Arrazola, Alex Negro, Tereza Lausová, Elisabeth Castellanos, Ignacio Blanco, George DeVries, Hiroyuki Kawashima, Eric Legius, Hilde Brems, Viktor Mautner, Lan Kluwe, Nancy Ratner, Margaret Wallace, Juana Fernández-Rodriguez, Conxi Lázaro, Jonathan A. Fletcher, David Reuss, Meritxell Carrió, Bernat Gel, and Eduard Serra
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Summary: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 suppressor 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 mutational frequencies and COSMIC signatures, and different methylome-based classifications. 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.
Item Description:Online verfügbar 31. Januar 2023, Artikelversion 9. Februar 2023
Gesehen am 10.07.2023
Physical Description:Online Resource
ISSN:2589-0042
DOI:10.1016/j.isci.2023.106096

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