Titre :

Ewsr1-patz1 gene fusion may define a new glioneuronal tumor entity

Auteur(s) :

Siegfried, Aurore [Auteur]
Service Hématologie - IUCT-Oncopole [CHU Toulouse]
Rousseau, Audrey [Auteur]
Centre de Recherche en Cancérologie et Immunologie Nantes-Angers [CRCINA]
Maurage, Claude-Alain [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Pericart, Sarah [Auteur]
Service Hématologie - IUCT-Oncopole [CHU Toulouse]
Nicaise, Yvan [Auteur]
Service Hématologie - IUCT-Oncopole [CHU Toulouse]
Escudie, Frederic [Auteur]
Service Hématologie - IUCT-Oncopole [CHU Toulouse]
Grand, David [Auteur]
Service Hématologie - IUCT-Oncopole [CHU Toulouse]
Delrieu, Alix [Auteur]
Service Hématologie - IUCT-Oncopole [CHU Toulouse]
Gomez-Brouchet, Anne [Auteur]
Service Hématologie - IUCT-Oncopole [CHU Toulouse]
Le Guellec, Sophie [Auteur]
Service Hématologie - IUCT-Oncopole [CHU Toulouse]
Franchet, Camille [Auteur]
Service Hématologie - IUCT-Oncopole [CHU Toulouse]
Boetto, Sergio [Auteur]
Université Toulouse Capitole [UT Capitole]
Vinchon, Matthieu [Auteur]
Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME]
Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Sol, Jean-Christophe [Auteur]
Toulouse NeuroImaging Center [ToNIC]
Roux, Franck-Emmanuel [Auteur]
Toulouse NeuroImaging Center [ToNIC]
Rigau, Valerie [Auteur]
Institut des Neurosciences de Montpellier [INM]
Bertozzi, Anne-Isabelle [Auteur]
Centre de Recherches en Cancérologie de Toulouse [CRCT]
Jones, David Tw [Auteur]
German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] [DKFZ]
Figarella-Branger, Dominique [Auteur]
Aix Marseille Université [AMU]
Uro-Coste, Emmanuelle [Auteur]
Aix Marseille Université [AMU]

Titre de la revue :

Brain pathology (Zurich, Switzerland)

Nom court de la revue :

Brain Pathol.

Numéro :

29

Pagination :

53;62

Date de publication :

2018-07

ISSN :

1750-3639

Mot(s)-clé(s) :

ganglioglioma
PATZ1
DNA methylation profiling
glioneuronal tumors
EWSR1

Discipline(s) HAL :

Sciences du Vivant [q-bio]

Résumé en anglais : [en]

We investigated the challenging diagnostic case of a ventricular cystic glioneuronal tumor with papillary features, by RNA sequencing using the Illumina TruSight RNA Fusion panel. We did not retrieve the SLC44A1-PRKCA ...
Lire la suite >We investigated the challenging diagnostic case of a ventricular cystic glioneuronal tumor with papillary features, by RNA sequencing using the Illumina TruSight RNA Fusion panel. We did not retrieve the SLC44A1-PRKCA fusion gene specific for papillary glioneuronal tumor, but an EWSR1-PATZ1 fusion transcript. RT-PCR followed by Sanger sequencing confirmed the EWSR1-PATZ1 fusion. It matched with canonic EWSR1 fusion oncogene, juxtaposing the entire N-terminal transcriptional activation domain of EWSR1 gene and the C-terminal DNA binding domain of a transcription factor gene, PATZ1. PATZ1 protein belongs to the BTB-ZF (broad-complex, tramtrack and bric-à-brac -zinc finger) family. It directly regulates Pou5f1 and Nanog and is essential to maintaining stemness by inhibiting neural differentiation. EWSR1-PATZ1 fusion is a rare event in tumors: it was only reported in six round cell sarcomas and in three gliomas of three exclusively molecular studies. The first reported glioma was a BRAFV600E negative ganglioglioma, the second a BRAFV600E negative glioneuronal tumor, not otherwise specified and the third, very recently reported, a high grade glioma, not otherwise specified. In our study, forty BRAFV600E negative gangliogliomas were screened by FISH using EWSR1 break-apart probes. We performed methylation profiling for the index case and for seven out of the ten FISH positive cases. The index case clustered apart from other pediatric low grade glioneuronal entities, and specifically from the well-defined ganglioglioma methylation group. An additional pediatric intraventricular ganglioglioma clustered slightly more closely with ganglioglioma, but showed differences from the main ganglioglioma group and similarities with the index case. Both cases harbored copy number variations at the PATZ1 locus. EWSR1-PATZ1 gene fusion might define a new type of glioneuronal tumors, distinct from gangliogliomas.Lire moins >

Langue :

Anglais

Audience :

Internationale

Vulgarisation :

Non

Établissement(s) :

CHU Lille
Inserm
Université de Lille

Collections :

• Lille Neurosciences & Cognition (LilNCog) - U 1172
• Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Équipe(s) de recherche :

Développement et plasticité du cerveau neuro-endocrine

Date de dépôt :

2021-06-23T13:40:59Z
2021-09-29T10:11:41Z
2022-01-24T10:10:38Z