Journal Article

DKFZ-2022-01477

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png The genomic landscape of dysembryoplastic neuroepithelial tumours and a comprehensive analysis of recurrent cases.

Pagès, M. ; Debily, M.-A. ; Fina, F. ; Jones, D. T. W.DKFZ* ; Saffroy, R. ; Castel, D. ; Blauwblomme, T. ; Métais, A. ; Bourgeois, M. ; Lechapt-Zalcman, E. ; Tauziède-Espariat, A. ; Andreiuolo, F. ; Chrétien, F. ; Grill, J. ; Boddaert, N. ; Figarella-Branger, D. ; Beroukhim, R. ; Varlet, P.

2022
Wiley-Blackwell Oxford [u.a.]

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Please use a persistent id in citations: doi:10.1111/nan.12834

Abstract: 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.

Keyword(s): DNA methylation profiling ; Dysembryoplastic neuroepithelial tumours ; FGFR1 ; Glioneuronal tumours ; Integrated diagnosis ; Isomorphic glioma ; Molecular pathology ; PLNTY ; Paediatric low-grade gliomas

Note: 2022 Oct;48(6):e12834

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Contributing Institute(s):

1. Pediatric Glioma (B360)

Research Program(s):

1. 312 - Funktionelle und strukturelle Genomforschung (POF4-312) (POF4-312)

Appears in the scientific report 2022

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Database coverage:
; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Life Sciences ; DEAL Wiley ; Ebsco Academic Search ; Essential Science Indicators ; IF >= 5 ; JCR ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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