{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:40:04Z","timestamp":1790516404144,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,7,13]],"date-time":"2018-07-13T00:00:00Z","timestamp":1531440000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Everest Centre for Paediatric Low-Grade Brain Tumour Research through the Brain Tumour Charity"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Brain Pathology"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    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\n                    <jats:italic>SLC44A1\u2010PRKCA<\/jats:italic>\n                    fusion gene specific for papillary glioneuronal tumor, but an\n                    <jats:italic>EWSR1\u2010PATZ1<\/jats:italic>\n                    fusion transcript. RT\u2010PCR followed by Sanger sequencing confirmed the\n                    <jats:italic>EWSR1\u2010PATZ1<\/jats:italic>\n                    fusion. It matched with canonic\n                    <jats:italic>EWSR1<\/jats:italic>\n                    fusion oncogene, juxtaposing the entire N\u2010terminal transcriptional activation domain of\n                    <jats:italic>EWSR1<\/jats:italic>\n                    gene and the C\u2010terminal DNA binding domain of a transcription factor gene,\n                    <jats:italic>PATZ1<\/jats:italic>\n                    .\n                    <jats:italic>PATZ1<\/jats:italic>\n                    protein belongs to the BTB\u2010ZF (broad\u2010complex, tramtrack and bric\u2010\u00e0\u2010brac \u2010zinc finger) family. It directly regulates Pou5f1 and Nanog and is essential to maintaining stemness by inhibiting neural differentiation.\n                    <jats:italic>EWSR1\u2010PATZ1<\/jats:italic>\n                    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 BRAF\n                    <jats:sup>V600E<\/jats:sup>\n                    negative ganglioglioma, the second a BRAF\n                    <jats:sup>V600E<\/jats:sup>\n                    negative glioneuronal tumor, not otherwise specified and the third, very recently reported, a high grade glioma, not otherwise specified. In our study, forty BRAF\n                    <jats:sup>V600E<\/jats:sup>\n                    negative gangliogliomas were screened by FISH using\n                    <jats:italic>EWSR1<\/jats:italic>\n                    break\u2010apart 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\u2010defined 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\n                    <jats:italic>PATZ1<\/jats:italic>\n                    locus.\n                    <jats:italic>EWSR1\u2010PATZ1<\/jats:italic>\n                    gene fusion might define a new type of glioneuronal tumors, distinct from gangliogliomas.\n                  <\/jats:p>","DOI":"10.1111\/bpa.12619","type":"journal-article","created":{"date-parts":[[2018,4,21]],"date-time":"2018-04-21T10:09:14Z","timestamp":1524305354000},"page":"53-62","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":73,"title":["<i>EWSR1\u2010PATZ1<\/i>\n                    gene fusion may define a new glioneuronal tumor entity"],"prefix":"10.1111","volume":"29","author":[{"given":"Aurore","family":"Siegfried","sequence":"first","affiliation":[{"name":"Department of Pathology IUCT\u2010Oncopole, Toulouse University Hospital Toulouse France"},{"name":"INSERM U1037, Team 11, Cancer Research Center of Toulouse (CRCT) Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Rousseau","sequence":"additional","affiliation":[{"name":"Department of Pathology Angers University Hospital Angers France"},{"name":"INSERM U1232, Cancer and Immunology Research Center of Nantes\u2010Angers (CRCINA), Team 17, Nantes University, Angers University Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude\u2010Alain","family":"Maurage","sequence":"additional","affiliation":[{"name":"Department of Pathology Lille University Hospital Lille France"},{"name":"INSERM U837 UMR\u2010S1172, Centre de Recherche Jean Pierre Aubert, Team 1 Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Pericart","sequence":"additional","affiliation":[{"name":"Department of Pathology IUCT\u2010Oncopole, Toulouse University Hospital Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvan","family":"Nicaise","sequence":"additional","affiliation":[{"name":"Department of Pathology IUCT\u2010Oncopole, Toulouse University Hospital Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9deric","family":"Escudie","sequence":"additional","affiliation":[{"name":"Department of Pathology IUCT\u2010Oncopole, Toulouse University Hospital Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Grand","sequence":"additional","affiliation":[{"name":"Department of Pathology IUCT\u2010Oncopole, Toulouse University Hospital Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alix","family":"Delrieu","sequence":"additional","affiliation":[{"name":"Department of Pathology IUCT\u2010Oncopole, Toulouse University Hospital Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Gomez\u2010Brouchet","sequence":"additional","affiliation":[{"name":"Department of Pathology IUCT\u2010Oncopole, Toulouse University Hospital Toulouse France"},{"name":"UMR5089 Institut de Pharmacologie et de Biologie Structurale (IPBS), Department of Cancer Biology Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Le Guellec","sequence":"additional","affiliation":[{"name":"Department of Pathology IUCT\u2010Oncopole, Toulouse University Hospital Toulouse France"},{"name":"Department of Pathology Institut Claudius Regaud, IUCT\u2010Oncopole Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camille","family":"Franchet","sequence":"additional","affiliation":[{"name":"Department of Pathology IUCT\u2010Oncopole, Toulouse University Hospital Toulouse France"},{"name":"Department of Pathology Institut Claudius Regaud, IUCT\u2010Oncopole Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergio","family":"Boetto","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Toulouse University Hospital Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthieu","family":"Vinchon","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Lille University Hospital Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Christophe","family":"Sol","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Toulouse University Hospital Toulouse France"},{"name":"UMR1214 Toulouse Neuro Imaging Center (TONIC), Team iDREAM, INSERM and Paul Sabatier University of Toulouse Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franck\u2010Emmanuel","family":"Roux","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Toulouse University Hospital Toulouse France"},{"name":"UMR1214 Toulouse Neuro Imaging Center (TONIC), Team iDREAM, INSERM and Paul Sabatier University of Toulouse Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Rigau","sequence":"additional","affiliation":[{"name":"Department of Pathology Montpellier University Medical Center Montpellier France"},{"name":"Institute for Neuroscience of Montpellier (INM), INSERM U1051, Team 4, Montpellier University Hospital Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Isabelle","family":"Bertozzi","sequence":"additional","affiliation":[{"name":"Department of Oncopediatry Toulouse University Hospital Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David T. 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Institut de Neurophysiopathologie (INP), Team GlioME, Aix\u2010Marseille University Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7300-5724","authenticated-orcid":false,"given":"Emmanuelle","family":"Uro\u2010Coste","sequence":"additional","affiliation":[{"name":"Department of Pathology IUCT\u2010Oncopole, Toulouse University Hospital Toulouse France"},{"name":"INSERM U1037, Team 11, Cancer Research Center of Toulouse (CRCT) Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,7,13]]},"reference":[{"key":"e_1_2_7_2_1","article-title":"Clinical and radiographic response following targeting of BCAN\u2010NTRK1 fusion in glioneuronal tumor","volume":"1","author":"Alvarez\u2010Breckenridge C","year":"2017","journal-title":"NPJ Precis 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