Low-grade epilepsy-associated neuroepithelial tumours with a prominent oligodendroglioma-like component: The diagnostic challenges.

Autor: Métais A; AP-HM, CHU Timone, Service d'Anatomie Pathologique et de Neuropathologie, Marseille, France.; Service d'Anatomie et Cytologie Pathologiques, CHU Pontchaillou, Rennes, France., Appay R; AP-HM, CHU Timone, Service d'Anatomie Pathologique et de Neuropathologie, Marseille, France.; Aix-Marseille Univ, CNRS, INP, Inst Neurophysiopathol, Marseille, France., Pagès M; GHU-Paris Sainte-Anne Hospital, Paris University, Paris, France.; Department of Genetics, Institut Curie, Paris, France.; SIREDO Paediatric Cancer Center, Institut Curie, Paris, France.; INSERM U830, Laboratory of Translational Research in Paediatric Oncology, Institut Curie, Paris, France., Gallardo C; AP-HM, CHU Timone, Service d'Anatomie Pathologique et de Neuropathologie, Marseille, France., Silva K; Groupe Hospitalier Est, Département de Neuropathologie, Hospices Civils de Lyon, Bron, France., Siegfried A; Department of Pathology, Toulouse University Hospital, Toulouse, France.; INSERM U1037, Cancer Research Center of Toulouse (CRCT), Toulouse, France.; Université Paul Sabatier, Toulouse III, Toulouse, France., Perbet R; Univ. Lille, Inserm, CHU Lille, Alzheimer and Tauopathies, Lille Neuroscience & Cognition, UMR-S1172, Lille, France., Maurage CA; Univ. Lille, Inserm, CHU Lille, Laboratory of Development and Plasticity of the Neuroendocrine Brain, Lille Neuroscience & Cognition, UMR-S1172, Lille, France., Scavarda D; Aix-Marseille Univ, AP-HM, Institut de Neurosciences des Systèmes, CHU Timone, Service de Neurochirurgie infantile, Marseille, France., Fina F; AP-HM, CHU Timone, Service d'Anatomie Pathologique et de Neuropathologie, Marseille, France.; ID Solutions, Research and Development, Grabels, France., Uro-Coste E; Department of Pathology, Toulouse University Hospital, Toulouse, France.; INSERM U1037, Cancer Research Center of Toulouse (CRCT), Toulouse, France.; Université Paul Sabatier, Toulouse III, Toulouse, France., Riffaud L; Department of Pediatric Neurosurgery, Rennes University Hospital, Rennes, France.; INSERM MediCIS, unit U1099 LTSI, Rennes 1 University, Rennes, France., Colin C; Aix-Marseille Univ, CNRS, INP, Inst Neurophysiopathol, Marseille, France., Figarella-Branger D; AP-HM, CHU Timone, Service d'Anatomie Pathologique et de Neuropathologie, Marseille, France.; Aix-Marseille Univ, CNRS, INP, Inst Neurophysiopathol, Marseille, France.
Jazyk: angličtina
Zdroj: Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2022 Feb; Vol. 48 (2), pp. e12769. Date of Electronic Publication: 2021 Nov 04.
DOI: 10.1111/nan.12769
Abstrakt: Aims: We searched for recurrent pathological features and molecular alterations in a retrospective series of 72 low-grade epilepsy-associated neuroepithelial tumours (LEATs) with a prominent oligodendroglioma-like component, in order to classify them according to the 2021 World Health Organization (WHO) classification of central nervous system (CNS) tumours.
Methods: Centralised pathological examination was performed as well as targeted molecular analysis of v-Raf murine sarcoma viral oncogene homologue B (BRAF) and fibroblast growth factor receptor 1 (FGFR1) by multiplexed digital polymerase chain reaction (mdPCR). DNA methylation profiling was performed in cases with sufficient DNA. In cases with no genetic alteration by mdPCR and sufficient material, RNA sequencing was done.
Results: We first reclassified our cohort into three groups: ganglioglioma (GG, n = 14), dysembryoplastic neuroepithelial tumours (DNTs, n = 19) and glioneuronal tumours/paediatric-type low-grade glioma (LGG) not otherwise specified (GNT/PLGG NOS, n = 39). mdPCR found an alteration in 38/72 cases. Subsequent RNA sequencing revealed a fusion transcript involving BRAF, FGFR1/2/3 or neurotrophic tyrosine kinase receptor type 2 [NTRK2] in 9/25 cases. DNA methylation profiling found 12/46 cases with a calibrated score ≥0.9. Unsupervised hierarchical clustering revealed two clusters: Cluster 1 was enriched with cases classified as DNT at histology, belonging to the LGG-DNT methylation class (MC), with haematopoietic progenitor cell antigen (CD34) negativity and FGRF1 alterations; Cluster 2 was enriched with cases classified at histology as GG, belonging to the LGG-GG MC MC, with BRAF V600E mutation and CD34 positivity. The tumours reclassified as GNT/PLGG NOS were equally distributed across both clusters. Interestingly, all polymorphous low-grade neuroepithelial tumour of the young belonged to Cluster 2, whereas diffuse LGG mitogen-activated protein kinase (MAPK) pathway-altered were equally distributed among the two clusters. This led us to build an algorithm to classify LEATs with a prominent oligodendroglioma-like component.
Conclusions: Integrated histomolecular diagnosis of LEATs with a prominent oligodendroglioma-like component remains challenging. Because these tumours can be split into two major clusters of biological significance, the clinicopathological relevance of the four types recognised by the WHO CNS5 within this spectrum of tumours is questionable.
(© 2021 British Neuropathological Society.)
Databáze: MEDLINE
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