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001     180677
005     20240229145628.0
024 7 _ |a 10.1111/nan.12834
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024 7 _ |a pmid:35836307
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024 7 _ |a 0305-1846
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024 7 _ |a 1365-2990
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037 _ _ |a DKFZ-2022-01477
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Pagès, Mélanie
|b 0
245 _ _ |a The genomic landscape of dysembryoplastic neuroepithelial tumours and a comprehensive analysis of recurrent cases.
260 _ _ |a Oxford [u.a.]
|c 2022
|b Wiley-Blackwell
336 7 _ |a article
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500 _ _ |a 2022 Oct;48(6):e12834
520 _ _ |a Dysembryoplastic neuroepithelial tumour (DNT) is a glioneuronal tumour that is challenging to diagnose, with a wide spectrum of histological features. Three histopathological patterns have been described: specific DNTs (both the simple form and the complex form) comprising the specific glioneuronal element, and also the non-specific/diffuse form which lacks it, and has unclear phenotype-genotype correlations with numerous differential diagnoses.We used targeted methods (IHC, FISH, targeted sequencing) and large-scale genomic methodologies including DNA methylation profiling to perform an integrative analysis to better characterize a large retrospective cohort of 82 DNTs, enriched for tumours that showed progression on imaging.We confirmed that specific DNTs are characterized by a single driver event with a high frequency of FGFR1 variants. However, a subset of DNA methylation-confirmed DNTs harbour alternative genomic alterations to FGFR1 duplication/mutation. We also demonstrated that a subset of DNTs sharing the same FGFR1 alterations can show in situ progression. In contrast to the specific forms, 'non-specific/diffuse DNTs' corresponded to a heterogeneous molecular group encompassing diverse, newly-described, molecularly-distinct entities.Specific DNT is a homogeneous group of tumours sharing characteristics of paediatric low-grade gliomas: a quiet genome with a recurrent genomic alteration in the RAS-MAPK signalling pathway, a distinct DNA methylation profile, a good prognosis but showing progression in some cases. The 'non-specific/diffuse DNTs' subgroup encompasses various recently described histo-molecular entities, such as PLNTY and diffuse astrocytoma, MYB or MYBL1-altered.
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650 _ 7 |a DNA methylation profiling
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650 _ 7 |a Dysembryoplastic neuroepithelial tumours
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650 _ 7 |a FGFR1
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650 _ 7 |a Glioneuronal tumours
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650 _ 7 |a Integrated diagnosis
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650 _ 7 |a Isomorphic glioma
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650 _ 7 |a Molecular pathology
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650 _ 7 |a PLNTY
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650 _ 7 |a Paediatric low-grade gliomas
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700 1 _ |a Debily, Marie-Anne
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700 1 _ |a Fina, Frédéric
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700 1 _ |a Jones, David T W
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700 1 _ |a Saffroy, Raphael
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700 1 _ |a Castel, David
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700 1 _ |a Blauwblomme, Thomas
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700 1 _ |a Métais, Alice
|b 7
700 1 _ |a Bourgeois, Marie
|b 8
700 1 _ |a Lechapt-Zalcman, Emmanuèle
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700 1 _ |a Tauziède-Espariat, Arnault
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700 1 _ |a Andreiuolo, Felipe
|b 11
700 1 _ |a Chrétien, Fabrice
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700 1 _ |a Grill, Jacques
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700 1 _ |a Boddaert, Nathalie
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700 1 _ |a Figarella-Branger, Dominique
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700 1 _ |a Beroukhim, Rameen
|b 16
700 1 _ |a Varlet, Pascale
|b 17
773 _ _ |a 10.1111/nan.12834
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910 1 _ |a Deutsches Krebsforschungszentrum
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