EWSR1-PATZ1 gene fusion may define a new glioneuronal tumor entity

被引:57
作者
Siegfried, Aurore [1 ,2 ]
Rousseau, Audrey [3 ,4 ]
Maurage, Claude-Alain [5 ,6 ]
Pericart, Sarah [1 ]
Nicaise, Yvan [1 ]
Escudie, Frederic [1 ]
Grand, David [1 ]
Delrieul, Alix [1 ]
Gomez-Brouchet, Anne [1 ,7 ]
Le Guellec, Sophie [1 ,8 ]
Franchet, Camille [1 ,8 ]
Boetto, Sergio [9 ]
Vinchon, Matthieu [10 ]
Sol, Jean-Christophe [9 ,11 ,12 ]
Roux, Franck-Emmanuel [9 ,11 ,12 ]
Rigau, Valerie [13 ,14 ]
Bertozzi, Anne-Isabelle [15 ]
Jones, David T. W. [16 ,17 ]
Figarella-Branger, Dominique [18 ,19 ]
Uro-Coste, Emmanuelle [1 ,2 ]
机构
[1] Toulouse Univ Hosp, Dept Pathol, IUCT Oncopole, Toulouse, France
[2] CRCT, INSERM U1037, Team 11, Toulouse, France
[3] Angers Univ Hosp, Dept Pathol, Angers, France
[4] Angers Univ, Nantes Univ, Canc & Immunol Res Ctr Nantes Angers CRCINA, INSERM U1232,Team 17, Angers, France
[5] Life Univ Hosp, Dept Pathol, Lille, France
[6] Ctr Rech Jean Pierre Aubert, Team 1, INSERM U837 UMR 51172, Lille, France
[7] IPBS, Dept Canc Biol, UMR5089, Toulouse, France
[8] IUCT Oncopole, Dept Pathol, Inst Claudius Regaud, Toulouse, France
[9] Toulouse Univ Hosp, Dept Neurosurg, Toulouse, France
[10] Lille Univ Hosp, Dept Neurosurg, Lille, France
[11] INSERM, UMR1214 Toulouse Neuro Imaging Ctr TONIC, Team iDREAM, Toulouse, France
[12] Paul Sabatier Univ Toulouse, Toulouse, France
[13] Montpellier Univ, Dept Pathol, Med Ctr, Montpellier, France
[14] Montpellier Univ Hosp, INM, INSERM U1051, Team 4, Montpellier, France
[15] Toulouse Univ Hosp, Dept Oncopediatry, Toulouse, France
[16] NCT Heidelberg KiTZ, Grp Pediat Glioma Res, Hopp Childrens Canc Ctr, Heidelberg, Germany
[17] German Canc Res Ctr, Div Pediat Neurooncol, German Canc Consortium DKTK, Heidelberg, Germany
[18] Marseille Univ Hosp, Dept Pathol, Marseille, France
[19] Aix Marseille Univ, Inst Neurophysiopathol INP, Team GlioME, UMR CNRS 7058, Marseille, France
关键词
DNA methylation profiling; EWSR1; ganglioglioma; glioneuronal tumors; PATZ1; SLC44A1-PRKCA FUSION; PAPILLARY; MUTATIONS; FGFR1; BRAF; REARRANGEMENTS; GERMLINE;
D O I
10.1111/bpa.12619
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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-a-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 BRAF(V600E) negative ganglioglioma, the second a BRAF(V600E) negative glioneuronal tumor, not otherwise specified and the third, very recently reported, a high grade glioma, not otherwise specified. In our study, forty BRAF(V600E) 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.
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页码:53 / 62
页数:10
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