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000180677 041__ $$aEnglish
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000180677 1001_ $$aPagès, Mélanie$$b0
000180677 245__ $$aThe genomic landscape of dysembryoplastic neuroepithelial tumours and a comprehensive analysis of recurrent cases.
000180677 260__ $$aOxford [u.a.]$$bWiley-Blackwell$$c2022
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000180677 500__ $$a2022 Oct;48(6):e12834
000180677 520__ $$aDysembryoplastic neuroepithelial tumour (DNT) is a glioneuronal tumour that is challenging to diagnose, with a wide spectrum of histological features. Three histopathological patterns have been described: specific DNTs (both the simple form and the complex form) comprising the specific glioneuronal element, and also the non-specific/diffuse form which lacks it, and has unclear phenotype-genotype correlations with numerous differential diagnoses.We used targeted methods (IHC, FISH, targeted sequencing) and large-scale genomic methodologies including DNA methylation profiling to perform an integrative analysis to better characterize a large retrospective cohort of 82 DNTs, enriched for tumours that showed progression on imaging.We confirmed that specific DNTs are characterized by a single driver event with a high frequency of FGFR1 variants. However, a subset of DNA methylation-confirmed DNTs harbour alternative genomic alterations to FGFR1 duplication/mutation. We also demonstrated that a subset of DNTs sharing the same FGFR1 alterations can show in situ progression. In contrast to the specific forms, 'non-specific/diffuse DNTs' corresponded to a heterogeneous molecular group encompassing diverse, newly-described, molecularly-distinct entities.Specific DNT is a homogeneous group of tumours sharing characteristics of paediatric low-grade gliomas: a quiet genome with a recurrent genomic alteration in the RAS-MAPK signalling pathway, a distinct DNA methylation profile, a good prognosis but showing progression in some cases. The 'non-specific/diffuse DNTs' subgroup encompasses various recently described histo-molecular entities, such as PLNTY and diffuse astrocytoma, MYB or MYBL1-altered.
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000180677 650_7 $$2Other$$aDNA methylation profiling
000180677 650_7 $$2Other$$aDysembryoplastic neuroepithelial tumours
000180677 650_7 $$2Other$$aFGFR1
000180677 650_7 $$2Other$$aGlioneuronal tumours
000180677 650_7 $$2Other$$aIntegrated diagnosis
000180677 650_7 $$2Other$$aIsomorphic glioma
000180677 650_7 $$2Other$$aMolecular pathology
000180677 650_7 $$2Other$$aPLNTY
000180677 650_7 $$2Other$$aPaediatric low-grade gliomas
000180677 7001_ $$aDebily, Marie-Anne$$b1
000180677 7001_ $$aFina, Frédéric$$b2
000180677 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David T W$$b3$$udkfz
000180677 7001_ $$aSaffroy, Raphael$$b4
000180677 7001_ $$aCastel, David$$b5
000180677 7001_ $$aBlauwblomme, Thomas$$b6
000180677 7001_ $$aMétais, Alice$$b7
000180677 7001_ $$aBourgeois, Marie$$b8
000180677 7001_ $$aLechapt-Zalcman, Emmanuèle$$b9
000180677 7001_ $$aTauziède-Espariat, Arnault$$b10
000180677 7001_ $$aAndreiuolo, Felipe$$b11
000180677 7001_ $$aChrétien, Fabrice$$b12
000180677 7001_ $$aGrill, Jacques$$b13
000180677 7001_ $$aBoddaert, Nathalie$$b14
000180677 7001_ $$aFigarella-Branger, Dominique$$b15
000180677 7001_ $$aBeroukhim, Rameen$$b16
000180677 7001_ $$aVarlet, Pascale$$b17
000180677 773__ $$0PERI:(DE-600)2008293-9$$a10.1111/nan.12834$$n6$$pe12834$$tNeuropathology & applied neurobiology$$v48$$x0305-1846$$y2022
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