PMID- 37349135
OWN - NLM
STAT- MEDLINE
DCOM- 20230831
LR  - 20230902
IS  - 1750-3639 (Electronic)
IS  - 1015-6305 (Print)
IS  - 1015-6305 (Linking)
VI  - 33
IP  - 5
DP  - 2023 Sep
TI  - A comprehensive analysis of infantile central nervous system tumors to improve 
      distinctive criteria for infant-type hemispheric glioma versus desmoplastic 
      infantile ganglioglioma/astrocytoma.
PG  - e13182
LID - 10.1111/bpa.13182 [doi]
LID - e13182
AB  - 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%), six IHG (20.0%), three gangliogliomas (10.0%), two 
      pleomorphic xanthoastrocytomas (6.7%), two pilocytic astrocytomas (6.7%), two 
      supratentorial ependymomas, ZFTA fusion-positive (6.7%), two supratentorial 
      ependymomas, YAP1 fusion-positive (6.7%), two embryonal tumors with PLAGL2-family 
      amplification (6.7%), and one diffuse low-grade glioma, MAPK-pathway altered. 
      This study highlights the significant differential features, in terms of 
      histopathology (leptomeningeal infiltration, intense desmoplasia and ganglion 
      cells in DIG/DIA and necrosis, microvascular proliferation, and siderophages in 
      IHG), and radiology between DIG/DIA and IHG. Moreover, these results are 
      consistent with the literature data concerning the molecular dichotomy (BRAF/RAF1 
      alterations vs. RTK genes' fusions) between DIG/DIA and IHG. This study 
      characterized histopathologically and radiologically two additional cases of the 
      novel embryonal tumor characterized by PLAGL2 gene amplification.
CI  - (c) 2023 The Authors. Brain Pathology published by John Wiley & Sons Ltd on behalf 
      of International Society of Neuropathology.
FAU - Tauziede-Espariat, Arnault
AU  - Tauziede-Espariat A
AUID- ORCID: 0000-0002-9979-0297
AD  - Department of Neuropathology, GHU Paris-Psychiatrie et Neurosciences, Sainte-Anne 
      Hospital, Paris, France.
AD  - Inserm, UMR 1266, IMA-Brain, Institut de Psychiatrie et Neurosciences de Paris, 
      Paris, France.
FAU - Beccaria, Kevin
AU  - Beccaria K
AD  - Department of Pediatric Neurosurgery, Necker Hospital, APHP, Universite Paris 
      Descartes, Sorbonne Paris Cite, Paris, France.
FAU - Dangouloff-Ros, Volodia
AU  - Dangouloff-Ros V
AD  - Pediatric Radiology Department, Hopital Necker Enfants Malades, AP-HP, Paris, 
      France.
AD  - Universite Paris Cite, UMR 1163, Institut Imagine and INSERM U1299, Paris, 
      France.
FAU - Sievers, Philipp
AU  - Sievers P
AD  - Department of Neuropathology, Institute of Pathology, University Hospital 
      Heidelberg, Heidelberg, Germany.
AD  - Clinical Cooperation Unit Neuropathology, German Consortium for Translational 
      Cancer Research (DKTK), German Cancer Research Center DKFZ, Heidelberg, Germany.
FAU - Meurgey, Alexandra
AU  - Meurgey A
AD  - Department of Biopathology, Leon Berard Cancer Center, Lyon, France.
AD  - INSERM 1052, CNRS 5286, Cancer Research Center of Lyon (CRCL), Lyon, France.
FAU - Pissaloux, Daniel
AU  - Pissaloux D
AD  - Department of Biopathology, Leon Berard Cancer Center, Lyon, France.
AD  - INSERM 1052, CNRS 5286, Cancer Research Center of Lyon (CRCL), Lyon, France.
FAU - Appay, Romain
AU  - Appay R
AD  - APHM, CHU Timone, Service d'Anatomie Pathologique et de Neuropathologie, 
      Marseille, France.
AD  - Aix-Marseille University, CNRS, INP, Institute of Neurophysiopathology, 
      Marseille, France.
FAU - Saffroy, Raphael
AU  - Saffroy R
AD  - Department of Biochemistry and Oncogenetics, Paul Brousse Hospital, Villejuif, 
      France.
FAU - Grill, Jacques
AU  - Grill J
AD  - U981, Molecular Predictors and New Targets in Oncology, INSERM, Gustave Roussy, 
      Universite Paris-Saclay, Villejuif, France.
AD  - Department of Pediatric Oncology, Gustave Roussy, Universite Paris-Saclay, 
      Villejuif, France.
FAU - Mariet, Cassandra
AU  - Mariet C
AD  - Department of Pediatric Oncology, Gustave Roussy, Universite Paris-Saclay, 
      Villejuif, France.
FAU - Bourdeaut, Franck
AU  - Bourdeaut F
AD  - INSERMU830, Laboratory of Translational Research in Pediatric Oncology, Paris, 
      France.
AD  - Institut Curie, SIREDO Center Care, Innovation, Research in Pediatric, Adolescent 
      and Young Adult Oncology, Paris Sciences Lettres Research University, Paris, 
      France.
FAU - Hasty, Lauren
AU  - Hasty L
AD  - Department of Neuropathology, GHU Paris-Psychiatrie et Neurosciences, Sainte-Anne 
      Hospital, Paris, France.
FAU - Metais, Alice
AU  - Metais A
AD  - Department of Neuropathology, GHU Paris-Psychiatrie et Neurosciences, Sainte-Anne 
      Hospital, Paris, France.
AD  - Inserm, UMR 1266, IMA-Brain, Institut de Psychiatrie et Neurosciences de Paris, 
      Paris, France.
FAU - Chretien, Fabrice
AU  - Chretien F
AD  - Department of Neuropathology, GHU Paris-Psychiatrie et Neurosciences, Sainte-Anne 
      Hospital, Paris, France.
FAU - Blauwblomme, Thomas
AU  - Blauwblomme T
AD  - Pediatric Radiology Department, Hopital Necker Enfants Malades, AP-HP, Paris, 
      France.
FAU - Puget, Stephanie
AU  - Puget S
AD  - Pediatric Radiology Department, Hopital Necker Enfants Malades, AP-HP, Paris, 
      France.
FAU - Boddaert, Nathalie
AU  - Boddaert N
AD  - Pediatric Radiology Department, Hopital Necker Enfants Malades, AP-HP, Paris, 
      France.
AD  - Universite Paris Cite, UMR 1163, Institut Imagine and INSERM U1299, Paris, 
      France.
FAU - Varlet, Pascale
AU  - Varlet P
AD  - Department of Neuropathology, GHU Paris-Psychiatrie et Neurosciences, Sainte-Anne 
      Hospital, Paris, France.
AD  - Inserm, UMR 1266, IMA-Brain, Institut de Psychiatrie et Neurosciences de Paris, 
      Paris, France.
CN  - RENOCLIP-LOC
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20230622
PL  - Switzerland
TA  - Brain Pathol
JT  - Brain pathology (Zurich, Switzerland)
JID - 9216781
RN  - EC 2.7.11.1 (Proto-Oncogene Proteins B-raf)
RN  - EC 2.7.10.1 (Protein-Tyrosine Kinases)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (PLAGL2 protein, human)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Transcription Factors)
RN  - 0 (RNA-Binding Proteins)
SB  - IM
MH  - Humans
MH  - *Ganglioglioma/genetics/pathology
MH  - *Brain Neoplasms/pathology
MH  - Proto-Oncogene Proteins B-raf/genetics
MH  - Retrospective Studies
MH  - In Situ Hybridization, Fluorescence
MH  - Protein-Tyrosine Kinases
MH  - Proto-Oncogene Proteins/genetics
MH  - *Astrocytoma/genetics/pathology
MH  - *Central Nervous System Neoplasms
MH  - *Neoplasms, Neuroepithelial
MH  - *Ependymoma
MH  - DNA-Binding Proteins/genetics
MH  - Transcription Factors/genetics
MH  - RNA-Binding Proteins
PMC - PMC10467037
OTO - NOTNLM
OT  - DNA-methylation
OT  - desmoplastic infantile ganglioglioma/astrocytoma
OT  - infant-type hemispheric glioma
OT  - infantile
COIS- The authors declare no conflicts of interest.
EDAT- 2023/06/23 01:10
MHDA- 2023/08/31 06:42
PMCR- 2023/06/22
CRDT- 2023/06/22 21:38
PHST- 2023/03/09 00:00 [received]
PHST- 2023/06/12 00:00 [accepted]
PHST- 2023/08/31 06:42 [medline]
PHST- 2023/06/23 01:10 [pubmed]
PHST- 2023/06/22 21:38 [entrez]
PHST- 2023/06/22 00:00 [pmc-release]
AID - BPA13182 [pii]
AID - 10.1111/bpa.13182 [doi]
PST - ppublish
SO  - Brain Pathol. 2023 Sep;33(5):e13182. doi: 10.1111/bpa.13182. Epub 2023 Jun 22.