Phenotypic and epigenetic heterogeneity in FGFR2-fused glial and glioneuronal tumours.

Autor: Métais A; Service de Neuropathologie, GHU Paris Psychiatrie et Neurosciences, Paris, France.; Université Paris Cité, Institute of Psychiatry and Neuroscience of Paris (IPNP), INSERM U1266, Paris, France., Dangouloff-Ros V; Paediatric Radiology Department, AP-HP, Hôpital Necker Enfants Malades, Université Paris cité, Paris, France.; Institut Imagine INSERM U1163 and U1299, Paris, France., Garcia J; APHM, CHU Timone, Service d'Anatomie Pathologique et de Neuropathologie, Marseille, France., Vannod-Michel Q; Neuroradiology Department, Lille University, Medical Centre, Lille, France., Csanyi M; Department of Pathology, Lille University Hospital, Lille, France., Tauziède-Espariat A; Service de Neuropathologie, GHU Paris Psychiatrie et Neurosciences, Paris, France.; Université Paris Cité, Institute of Psychiatry and Neuroscience of Paris (IPNP), INSERM U1266, Paris, France., Appay R; APHM, CHU Timone, Service d'Anatomie Pathologique et de Neuropathologie, Marseille, France.; Aix-Marseille Univ, CNRS, INP, Inst Neurophysiopathol, GlioME Team, Marseille, France., Maurage CA; Department of Pathology, Lille University Hospital, Lille, France., Uro-Coste E; Department of Pathology, Toulouse University Hospital, Toulouse, France., Meyronet D; Groupe Hospitalier Est, Département de Neuropathologie, Hospices Civils de Lyon, Bron, France., Rigau V; Department of Pathology, Gui de Chauliac Hospital, Montpellier University Medical Center, Montpellier, France., Rousseau A; Department of Pathology, University Hospital of Angers, Angers, France.; Univ Angers, Nantes Université, Inserm, CNRS, CRCI2NA, SFR ICAT, Angers, F-49000, France., Chotard G; Service de pathologie, Groupe Hospitalier Pellegrin, CHU Bordeaux, Bordeaux, France., Hamelin J; Department of Biochemistry and Oncogenetic, APHP, Paul-Brousse Hospital, Villejuif, France., Pierron G; Unité de Génétique Somatique, Institut Curie, Paris, France., Colin C; Aix-Marseille Univ, CNRS, INP, Inst Neurophysiopathol, GlioME Team, Marseille, France., Ollivier M; Neuroradiology Department, Bordeaux University, Medical Centre, Bordeaux, France., Roques M; Radiology Department, Purpan University Hospital, Toulouse, France., Provost C; Université Paris Cité, Institute of Psychiatry and Neuroscience of Paris (IPNP), INSERM U1266, Paris, France.; Service de Neuroradiologie, GHU Paris Psychiatrie et Neurosciences, Paris, France., Cottier JP; Service de Radiologie, CHU Tours, Tours, France., Pallud J; Université Paris Cité, Institute of Psychiatry and Neuroscience of Paris (IPNP), INSERM U1266, Paris, France.; Department of Neurosurgery, GHU Paris Psychiatrie et Neurosciences, Paris, France., Chrétien F; Service de Neuropathologie, GHU Paris Psychiatrie et Neurosciences, Paris, France.; Université Paris Cité, Institute of Psychiatry and Neuroscience of Paris (IPNP), INSERM U1266, Paris, France., Guida L; Department of Pediatric Neurosurgery, Necker Enfants Malades Hospital, Paris, France., Blauwblomme T; Department of Pediatric Neurosurgery, Necker Enfants Malades Hospital, Paris, France., Boddaert N; Paediatric Radiology Department, AP-HP, Hôpital Necker Enfants Malades, Université Paris cité, Paris, France.; Institut Imagine INSERM U1163 and U1299, Paris, France., Varlet P; Service de Neuropathologie, GHU Paris Psychiatrie et Neurosciences, Paris, France.; Université Paris Cité, Institute of Psychiatry and Neuroscience of Paris (IPNP), INSERM U1266, Paris, France., Edjlali M; Department of Radiology, APHP, Hôpitaux Raymond-Poincaré & Ambroise Paré, DMU Smart Imaging, GH Université Paris-Saclay, Paris, France.; Laboratoire d'imagerie Biomédicale Multimodale (BioMaps), Université Paris-Saclay, CEA, CNRS, Inserm, Service Hospitalier Frédéric Joliot, Orsay, France., Figarella-Branger D; APHM, CHU Timone, Service d'Anatomie Pathologique et de Neuropathologie, Marseille, France.; Aix-Marseille Univ, CNRS, INP, Inst Neurophysiopathol, GlioME Team, Marseille, France.
Jazyk: angličtina
Zdroj: Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2024 Dec; Vol. 50 (6), pp. e13014.
DOI: 10.1111/nan.13014
Abstrakt: Aims: FGFR-fused central nervous system (CNS) tumours are rare and are usually within the glioneuronal and neuronal tumours or the paediatric-type diffuse low-grade glioma spectrum. Among this spectrum, FGFR2 fusion has been documented in tumours classified by DNA-methylation profiling as polymorphous low-grade neuroepithelial tumours of the young (PLNTY), a recently described tumour type. However, FGFR2 fusions have also been reported in glioneuronal tumours, highlighting the overlapping diagnostic criteria and challenges.
Methods: We investigated the FGFR2 fusion landscape in a French national series of tumours sent to the RENOCLIP-LOC network. We comprehensively analysed histology, radiology and molecular data including DNA-methylation profiling for 16 FGFR2-fused glioneuronal tumours.
Results: Most tumours were located in the temporal or parietal lobe with a median age at diagnosis of 7 years [1-44]. Epilepsy was the most frequent symptom. Five patients had tumour progression or recurrence with a median progression-free survival of 22.6 months. Histological phenotypes corresponding to PLNTY, GG, MVNT or unclassified tumours were recorded. Epigenetic profiling could not properly distinguish epigenetic clusters related to the GG and PLNTY methylation classes among FGFR2-fused glioneuronal tumours. However, a neuroradiological review identified strikingly distinct neuroradiological patterns.
Conclusion: While delineating tumour types among the FGFR2-fused glioneuronal tumour spectrum, by histopathology or DNA-methylation profiling, remains challenging, neuroimaging data revealed two distinct patterns that could correlate to PLNTY and ganglioglioma. However, more series including extensive histo-radio-molecular data are needed to confirm this hypothesis.
(© 2024 The Author(s). Neuropathology and Applied Neurobiology published by John Wiley & Sons Ltd on behalf of British Neuropathological Society.)
Databáze: MEDLINE
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