Pediatric spinal pilocytic astrocytomas form a distinct epigenetic subclass from pilocytic astrocytomas of other locations and diffuse leptomeningeal glioneuronal tumours - Aix-Marseille Université Accéder directement au contenu
Article Dans Une Revue Acta Neuropathologica Année : 2023

Pediatric spinal pilocytic astrocytomas form a distinct epigenetic subclass from pilocytic astrocytomas of other locations and diffuse leptomeningeal glioneuronal tumours

Alice Métais
Yassine Bouchoucha
  • Fonction : Auteur
Volodia Dangouloff-Ros
  • Fonction : Auteur
Xavier Maynadier
  • Fonction : Auteur
Matthieu Carton
  • Fonction : Auteur
Wael Yacoub
  • Fonction : Auteur
Raphael Saffroy
  • Fonction : Auteur
Emmanuelle Uro-Coste
  • Fonction : Auteur
Annick Sevely
  • Fonction : Auteur
Delphine Larrieu-Ciron
  • Fonction : Auteur
Maxime Faisant
  • Fonction : Auteur
Marie-Christine Machet
  • Fonction : Auteur
Ellen Wahler
  • Fonction : Auteur
Alexandre Roux
  • Fonction : Auteur
Sandro Benichi
  • Fonction : Auteur
Kevin Beccaria
  • Fonction : Auteur
Thomas Blauwblomme
  • Fonction : Auteur
Nathalie Boddaert
  • Fonction : Auteur
Fabrice Chrétien
  • Fonction : Auteur
François Doz
  • Fonction : Auteur
Marie Anne Debily
  • Fonction : Auteur
Pascale Varlet
  • Fonction : Auteur
Arnault Tauziède-Espariat
  • Fonction : Auteur

Résumé

Pediatric spinal low-grade glioma (LGG) and glioneuronal tumours are rare, accounting for less 2.8–5.2% of pediatric LGG. New tumour types frequently found in spinal location such as diffuse leptomeningeal glioneuronal tumours (DLGNT) have been added to the World Health Organization (WHO) classification of tumours of the central nervous system since 2016, but their distinction from others gliomas and particularly from pilocytic astrocytoma (PA) are poorly defined. Most large studies on this subject were published before the era of the molecular diagnosis and did not address the differential diagnosis between PAs and DLGNTs in this peculiar location. Our study retrospectively examined a cohort of 28 children with LGGs and glioneuronal intramedullary tumours using detailed radiological, clinico-pathological and molecular analysis. 25% of spinal PAs were reclassified as DLGNTs. PA and DLGNT are nearly indistinguishable in histopathology or neuroradiology. 83% of spinal DLGNTs presented first without leptomeningeal contrast enhancement. Unsupervised t-distributed stochastic neighbor embedding (t-SNE) analysis of DNA methylation profiles showed that spinal PAs formed a unique methylation cluster distinct from reference midline and posterior fossa PAs, whereas spinal DLGNTs clustered with reference DLGNT cohort. FGFR1 alterations were found in 36% of spinal tumours and were restricted to PAs. Spinal PAs affected significantly younger patients (median age 2 years old) than DLGNTs (median age 8.2 years old). Progression-free survival was similar among the two groups. In this location, histopathology and radiology are of limited interest, but molecular data (methyloma, 1p and FGFR1 status) represent important tools differentiating these two mitogen-activated protein kinase (MAPK) altered tumour types, PA and DLGNT. Thus, these molecular alterations should systematically be explored in this type of tumour in a spinal location.
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Origine : Publication financée par une institution
Licence : CC BY - Paternité

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hal-03982282 , version 1 (11-10-2023)

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Paternité

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Alice Métais, Yassine Bouchoucha, Thomas Kergrohen, Volodia Dangouloff-Ros, Xavier Maynadier, et al.. Pediatric spinal pilocytic astrocytomas form a distinct epigenetic subclass from pilocytic astrocytomas of other locations and diffuse leptomeningeal glioneuronal tumours. Acta Neuropathologica, 2023, 145 (1), pp.83-95. ⟨10.1007/s00401-022-02512-6⟩. ⟨hal-03982282⟩
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