%0 Journal Article
%A Tauziède-Espariat, Arnault
%A Beccaria, Kévin
%A Dangouloff-Ros, Volodia
%A Sievers, Philipp
%A Meurgey, Alexandra
%A Pissaloux, Daniel
%A Appay, Romain
%A Saffroy, Raphaël
%A Grill, Jacques
%A Mariet, Cassandra
%A Bourdeaut, Franck
%A Hasty, Lauren
%A Métais, Alice
%A Chrétien, Fabrice
%A Blauwblomme, Thomas
%A Puget, Stéphanie
%A Boddaert, Nathalie
%A Varlet, Pascale
%T A comprehensive analysis of infantile central nervous system tumors to improve distinctive criteria for infant-type hemispheric glioma versus desmoplastic infantile ganglioglioma/astrocytoma.
%J Brain pathology
%V 33
%N 5
%@ 1015-6305
%C Oxford
%I Wiley-Blackwell
%M DKFZ-2023-01258
%P e13182
%D 2023
%Z 2023 Sep;33(5):e13182
%X Recent epigenomic analyses have revealed the existence of a new DNA methylation class (MC) of infant-type hemispheric glioma (IHG). Like desmoplastic infantile ganglioglioma/astrocytoma (DIG/DIA), these tumors mainly affect infants and are supratentorial. While DIG/DIA is characterized by BRAF or RAF1 alterations, IHG has been shown to have receptor tyrosine kinase (RTK) gene fusions (ALK, ROS1, NTRK1/2/3, and MET). However, in this rapidly evolving field, a more comprehensive analysis of infantile glial/glioneuronal tumors including clinical, radiological, histopathological, and molecular data is needed. Here, we retrospectively investigated data from 30 infantile glial/glioneuronal tumors, consecutively compiled from our center. They were analyzed by two experienced pediatric neuroradiologists in consensus, without former knowledge of the molecular data. We also performed a comprehensive clinical, and histopathological examination (including molecular evaluation by next-generation sequencing, RNA sequencing, and fluorescence in situ hybridization [FISH] analyses), as well as DNA methylation profiling for the samples having sufficient material available. The integrative histopathological, genetic, and epigenetic analyses, including t-distributed stochastic neighbor embedding (t-SNE) analyses segregated tumors into 10 DIG/DIA (33.3
%K DNA-methylation (Other)
%K desmoplastic infantile ganglioglioma/astrocytoma (Other)
%K infant-type hemispheric glioma (Other)
%K infantile (Other)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:37349135
%R 10.1111/bpa.13182
%U https://inrepo02.dkfz.de/record/277074