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1. CNS tumors with PLAGL1-fusion: beyond ZFTA and YAP1 in the genetic spectrum of supratentorial ependymomas

Author

Tauziède-Espariat, Arnault, Nicaise, Yvan, Sievers, Philipp, Sahm, Felix, von Deimling, Andreas, Guillemot, Delphine, Pierron, Gaëlle, Duchesne, Mathilde, Edjlali, Myriam, Dangouloff-Ros, Volodia, Boddaert, Nathalie, Roux, Alexandre, Dezamis, Edouard, Hasty, Lauren, Lhermitte, Benoît, Hirsch, Edouard, Hirsch, Maria Paola Valenti, Ardellier, François-Daniel, Karnoub, Mélodie-Anne, Csanyi, Marie, Maurage, Claude-Alain, Mokhtari, Karima, Bielle, Franck, Rigau, Valérie, Roujeau, Thomas, Abad, Marine, Klein, Sébastien, Bernier, Michèle, Horodyckid, Catherine, Adam, Clovis, Brandal, Petter, Niehusmann, Pitt, Vannod-Michel, Quentin, Provost, Corentin, de Champfleur, Nicolas Menjot, Nichelli, Lucia, Métais, Alice, Mariet, Cassandra, Chrétien, Fabrice, Blauwblomme, Thomas, Beccaria, Kévin, Pallud, Johan, Puget, Stéphanie, Uro-Coste, Emmanuelle, and Varlet, Pascale

Published
2024
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3. CNS neuroblastoma, FOXR2-activated and its mimics: a relevant panel approach for work-up and accurate diagnosis of this rare neoplasm

Author

Tauziède-Espariat, Arnault, Figarella-Branger, Dominique, Métais, Alice, Uro-Coste, Emmanuelle, Maurage, Claude-Alain, Lhermitte, Benoît, Aline-Fardin, Aude, Hasty, Lauren, Vasiljevic, Alexandre, Chiforeanu, Dan, Chotard, Guillaume, Adle-Biassette, Homa, Meurgey, Alexandra, Saffroy, Raphaël, Guillemot, Delphine, Pierron, Gaëlle, Sievers, Philipp, and Varlet, Pascale

Published
2023
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4. CNS tumor with EP300::BCOR fusion: discussing its prevalence in adult population

Author

Tauziède-Espariat, Arnault, Uro-Coste, Emmanuelle, Sievers, Philipp, Nicaise, Yvan, Mariet, Cassandra, Siegfried, Aurore, Pierron, Gaëlle, Guillemot, Delphine, Benzakoun, Joseph, Pallud, Johan, Roques, Margaux, Bonneville, Fabrice, Larrieu-Ciron, Delphine, Chaynes, Patrick, Saffroy, Raphaël, Hamelin, Jocelyne, Hasty, Lauren, Métais, Alice, Chrétien, Fabrice, Kool, Marcel, Gojo, Johannes, and Varlet, Pascale

Published
2023
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6. Disseminated diffuse midline gliomas, H3K27-altered mimicking diffuse leptomeningeal glioneuronal tumors: a diagnostical challenge!

Author

Tauziède-Espariat, Arnault, Siegfried, Aurore, Uro-Coste, Emmanuelle, Nicaise, Yvan, Castel, David, Sevely, Annick, Gambart, Marion, Boetto, Sergio, Hasty, Lauren, Métais, Alice, Chrétien, Fabrice, Benzakoun, Joseph, Puget, Stéphanie, Grill, Jacques, Dangouloff-Ros, Volodia, Boddaert, Nathalie, Ebrahimi, Azadeh, and Varlet, Pascale

Published
2022
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7. A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

Author

Biancalana, Valérie, Rendu, John, Chaussenot, Annabelle, Mecili, Helen, Bieth, Eric, Fradin, Mélanie, Mercier, Sandra, Michaud, Maud, Nougues, Marie-Christine, Pasquier, Laurent, Sacconi, Sabrina, Romero, Norma B., Marcorelles, Pascale, Authier, François Jérôme, Gelot Bernabe, Antoinette, Uro-Coste, Emmanuelle, Cances, Claude, Isidor, Bertrand, Magot, Armelle, Minot-Myhie, Marie-Christine, Péréon, Yann, Perrier-Boeswillwald, Julie, Bretaudeau, Gilles, Dondaine, Nicolas, Bouzenard, Alison, Pizzimenti, Mégane, Eymard, Bruno, Ferreiro, Ana, Laporte, Jocelyn, Fauré, Julien, and Böhm, Johann

Published
2021
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8. The molecular landscape of ETMR at diagnosis and relapse

Author

Lambo, Sander, Gröbner, Susanne N., Rausch, Tobias, Waszak, Sebastian M., Schmidt, Christin, Gorthi, Aparna, Romero, July Carolina, Mauermann, Monika, Brabetz, Sebastian, Krausert, Sonja, Buchhalter, Ivo, Koster, Jan, Zwijnenburg, Danny A., Sill, Martin, Hübner, Jens-Martin, Mack, Norman, Schwalm, Benjamin, Ryzhova, Marina, Hovestadt, Volker, Papillon-Cavanagh, Simon, Chan, Jennifer A., Landgraf, Pablo, Ho, Ben, Milde, Till, Witt, Olaf, Ecker, Jonas, Sahm, Felix, Sumerauer, David, Ellison, David W., Orr, Brent A., Darabi, Anna, Haberler, Christine, Figarella-Branger, Dominique, Wesseling, Pieter, Schittenhelm, Jens, Remke, Marc, Taylor, Michael D., Gil-da-Costa, Maria J., Łastowska, Maria, Grajkowska, Wiesława, Hasselblatt, Martin, Hauser, Peter, Pietsch, Torsten, Uro-Coste, Emmanuelle, Bourdeaut, Franck, Masliah-Planchon, Julien, Rigau, Valérie, Alexandrescu, Sanda, Wolf, Stephan, Li, Xiao-Nan, Schüller, Ulrich, Snuderl, Matija, Karajannis, Matthias A., Giangaspero, Felice, Jabado, Nada, von Deimling, Andreas, Jones, David T. W., Korbel, Jan O., von Hoff, Katja, Lichter, Peter, Huang, Annie, Bishop, Alexander J. R., Pfister, Stefan M., Korshunov, Andrey, and Kool, Marcel

Published
2019
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9. Randomized phase III trial of metabolic imaging-guided dose escalation of radio-chemotherapy in patients with newly diagnosed glioblastoma (SPECTRO GLIO trial)

Author

Laprie, Anne, primary, Noel, Georges, additional, Chaltiel, Leonor, additional, Truc, Gilles, additional, Sunyach, Marie-Pierre, additional, Charissoux, Marie, additional, Magne, Nicolas, additional, Auberdiac, Pierre, additional, Biau, Julian, additional, Ken, Soléakhéna, additional, Tensaouti, Fatima, additional, Khalifa, Jonathan, additional, Sidibe, Ingrid, additional, Roux, Franck-Emmanuel, additional, Vieillevigne, Laure, additional, Catalaa, Isabelle, additional, Boetto, Sergio, additional, Uro-Coste, Emmanuelle, additional, Supiot, Stéphane, additional, Bernier, Valérie, additional, Filleron, Thomas, additional, Mounier, Muriel, additional, Poublanc, Muriel, additional, Olivier, Pascale, additional, Delord, Jean-Pierre, additional, and Cohen-Jonathan-Moyal, Elizabeth, additional

Published
2023
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10. The EP300:BCOR fusion extends the genetic alteration spectrum defining the new tumoral entity of “CNS tumors with BCOR internal tandem duplication”

Author

Tauziède-Espariat, Arnault, Pierron, Gaëlle, Siegfried, Aurore, Guillemot, Delphine, Uro-Coste, Emmanuelle, Nicaise, Yvan, Castel, David, Catalaa, Isabelle, Larrieu-Ciron, Delphine, Chaynes, Patrick, de Barros, Amaury, Nicolau, Julien, Gareton, Albane, Lechapt, Emmanuèle, Chrétien, Fabrice, Bourdeaut, Franck, Doz, François, Bouchoucha, Yassine, Grill, Jacques, Beccaria, Kévin, Boddaert, Nathalie, Saffroy, Raphaël, Pagès, Mélanie, and Varlet, Pascale

Published
2020
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12. Hypofractionated Stereotactic Re-irradiation and Anti-PDL1 Durvalumab Combination in Recurrent Glioblastoma: STERIMGLI Phase I Results

Author

Pouessel, Damien, primary, Ken, Soléakhéna, additional, Gouaze-Andersson, Valérie, additional, Piram, Lucie, additional, Mervoyer, Augustin, additional, Larrieu-Ciron, Delphine, additional, Cabarrou, Bastien, additional, Lusque, Amélie, additional, Robert, Marie, additional, Frenel, Jean-Sebastien, additional, Uro-Coste, Emmanuelle, additional, Olivier, Pascale, additional, Mounier, Muriel, additional, Sabatini, Umberto, additional, Sanchez, Eduardo Hugo, additional, Zouitine, Mehdi, additional, Berjaoui, Ahmad, additional, and Cohen-Jonathan Moyal, Elizabeth, additional

Published
2023
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13. Natural Course and Prognosis of Primary Spinal Glioblastoma: A Nationwide Study

Author

Amelot, Aymeric, Terrier, Louis-Marie, Mathon, Bertrand, Joubert, Christophe, Picart, Thiebaud, Jecko, Vincent, Bauchet, Luc, Bernard, Florian, Castel, Xavier, Chenin, Louis, Cook, Ann-Rose, Emery, Evelyne, Figarella-Branger, Dominique, Gauchotte, Guillaume, Graillon, Thomas, Jouvet, Anne, Kalamarides, Michel, Knafo, Steven, Lazard, Arnaud, Lubrano, Vincent, Mokhtari, Karima, Rigau, Valérie, Roualdes, Vincent, Rousseau, Audrey, Seizeur, Romuald, Uro-Coste, Emmanuelle, Voirin, Jimmy, Metellus, Philippe, Pallud, Johan, and Zemmoura, Ilyess

Subjects
Neurology (clinical), Research Article
Abstract

Background and ObjectivesPrimary spinal glioblastoma (PsGBM) is extremely rare. The dramatic neurologic deterioration and unresectability of PsGBM makes it a particularly disabling malignant neoplasm. Because it is a rare and heterogeneous disease, the assessment of prognostic factors remains limited.MethodsPsGBMs were identified from the French Brain Tumor Database and the Club de Neuro-Oncologie of the Société Française de Neurochirurgie retrospectively. Inclusion criteria were age 18 years or older at diagnosis, spinal location, histopathologic diagnosis of newly glioblastoma according to the 2016 World Health Organization classification, and surgical management between 2004 and 2016. Diagnosis was confirmed by a centralized neuropathologic review. The primary outcome was overall survival (OS). Therapeutic interventions and neurologic outcomes were also collected.ResultsThirty-three patients with a histopathologically confirmed PsGBM (median age 50.9 years) were included (27 centers). The median OS was 13.1 months (range 2.5–23.7), and the median progression-free survival was 5.9 months (range 1.6–10.2). In multivariable analyses using Cox model, Eastern Cooperative Oncology Group (ECOG) performance status at 0–1 was the only independent predictor of longer OS (hazard ratio [HR] 0.13, 95% CI 0.02–0.801;p= 0.02), whereas a Karnofsky performance status (KPS) score p= 0.03) and a cervical anatomical location (HR 4.14, 95% CI 1.32–12.98;p= 0.01) were independent predictors of shorter OS. The ambulatory status (Frankel D–E) (HR 0.38, 95% CI 0.07–1.985;p= 0.250) was not an independent prognostic factor, while the concomitant standard radiochemotherapy with temozolomide (Stupp protocol) (HR 0.35, 95% CI 0.118–1.05;p= 0.06) was at the limit of significance.DiscussionPreoperative ECOG performance status, KPS score, and the location are independent predictors of OS of PsGBMs in adults. Further analyses are required to capture the survival benefit of concomitant standard radiochemotherapy with temozolomide.

Published
2023

14. Two novel tumours with NTRK2 fusion in the methylation class of extraventricular neurocytomas, including one intraventricular.

Author

Uro‐Coste, Emmanuelle, Tauziede‐Espariat, Arnault, Dubucs, Charlotte, Chiforeanu, Dan Christian, Siegfried, Aurore, Nicaise, Yvan, Bauchet, Luc, Riffaud, Laurent, Bielle, Franck, Vasiljevic, Alexandre, Appay, Romain, Evrard, Solène, Varlet, Pascale, and Rigau, Valérie

Subjects
*TUMORS, *METHYLATION
Abstract

This article discusses two novel tumors classified as extraventricular neurocytomas (EVN) that were found to have NTRK2 fusions instead of the usual FGFR1 alterations. The first case involved a 23-year-old woman with migraines and epileptic seizures, while the second case involved a 15-year-old girl with intracerebral calcifications. Both cases underwent total removal of the tumors and showed positive staining for synaptophysin and olig2. The study suggests that these findings have implications for diagnosis, therapy, and terminology, and further research is needed to better understand these tumors. [Extracted from the article]

Published
2024
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15. Dose-painting multicenter phase III trial in newly diagnosed glioblastoma: the SPECTRO-GLIO trial comparing arm A standard radiochemotherapy to arm B radiochemotherapy with simultaneous integrated boost guided by MR spectroscopic imaging

Author

Laprie, Anne, Ken, Soléakhéna, Filleron, Thomas, Lubrano, Vincent, Vieillevigne, Laure, Tensaouti, Fatima, Catalaa, Isabelle, Boetto, Sergio, Khalifa, Jonathan, Attal, Justine, Peyraga, Guillaume, Gomez-Roca, Carlos, Uro-Coste, Emmanuelle, Noel, Georges, Truc, Gilles, Sunyach, Marie-Pierre, Magné, Nicolas, Charissoux, Marie, Supiot, Stéphane, Bernier, Valérie, Mounier, Muriel, Poublanc, Muriel, Fabre, Amandine, Delord, Jean-Pierre, and Cohen-Jonathan Moyal, Elizabeth

Published
2019
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18. A Multigene Signature Associated with Progression-Free Survival after Treatment for IDH Mutant and 1p/19q Codeleted Oligodendrogliomas.

Author

Gilhodes, Julia, Meola, Adèle, Cabarrou, Bastien, Peyraga, Guillaume, Dehais, Caroline, Figarella-Branger, Dominique, Ducray, François, Maurage, Claude-Alain, Loussouarn, Delphine, Uro-Coste, Emmanuelle, and Cohen-Jonathan Moyal, Elizabeth

Subjects
CANCER chemotherapy, MULTIVARIATE analysis, GLIOMAS, GENE expression, TREATMENT effectiveness, GENES, SURVIVAL analysis (Biometry), PROGRESSION-free survival, OXIDOREDUCTASES, RADIOTHERAPY, LONGITUDINAL method
Abstract

Simple Summary: Since the publication in 2016 of the WHO's classification of primary brain tumors according to their histopathology but also their molecular status (IDH, 1p/19q codeletion), oligodendrogliomas defined by the presence of the 1p/19q codeletion have been clearly identified as having a better prognosis. However, the response to treatment of 1p/19q codeleted gliomas remains heterogeneous. Very few studies have investigated the genetic profiles of these tumors, particularly with regard to their response to treatment (radiotherapy and chemotherapy). Our analyses revealed a gene signature composed of eight genes involved in metabolism, immunity, and extracellular matrix organization pathways that were associated with a poor response to treatment for 1p/19q codeleted tumors. This signature could be used in the future to identify patients who need more intensive treatment, potentially with inhibitors of these pathways. Background. IDH mutant and 1p/19q codeleted oligodendrogliomas are the gliomas associated with the best prognosis. However, despite their sensitivity to treatment, patient survival remains heterogeneous. We aimed to identify gene expressions associated with response to treatment from a national cohort of patients with oligodendrogliomas, all treated with radiotherapy +/− chemotherapy. Methods. We extracted total RNA from frozen tumor samples and investigated enriched pathways using KEGG and Reactome databases. We applied a stability selection approach based on subsampling combined with the lasso-pcvl algorithm to identify genes associated with progression-free survival and calculate a risk score. Results. We included 68 patients with oligodendrogliomas treated with radiotherapy +/− chemotherapy. After filtering, 1697 genes were obtained, including 134 associated with progression-free survival: 35 with a better prognosis and 99 with a poorer one. Eight genes (ST3GAL6, QPCT, NQO1, EPHX1, CST3, S100A8, CHI3L1, and OSBPL3) whose risk score remained statistically significant after adjustment for prognostic factors in multivariate analysis were selected in more than 60% of cases were associated with shorter progression-free survival. Conclusions. We found an eight-gene signature associated with a higher risk of rapid relapse after treatment in patients with oligodendrogliomas. This finding could help clinicians identify patients who need more intensive treatment. [ABSTRACT FROM AUTHOR]

Published
2023
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20. PATH-12. A new powerful tool to simultaneously deliver DNA methylation profile and driver fusions detection based on Nanopore Sequencing

Author

Filser, Mathilde, primary, Hamza, Abderaouf, additional, Girard, Elodie, additional, Servant, Nicolas, additional, Renault, Victor, additional, Merchadou, Kevin, additional, Bourneix, Christine, additional, Varlet, Pascale, additional, Uro-Coste, Emmanuelle, additional, Tauziède-Espariat, Arnault, additional, Doz, Francois, additional, Bourdeaut, Franck, additional, Delattre, Olivier, additional, and Masliah-Planchon, Julien, additional

Published
2022
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21. Tumor cells with neuronal intermediate progenitor features define a subgroup of 1p/19q co‐deleted anaplastic gliomas

Author

Bielle, Franck, Ducray, François, Mokhtari, Karima, Dehais, Caroline, Adle‐Biassette, Homa, Carpentier, Catherine, Chanut, Anaïs, Polivka, Marc, Poggioli, Sylvie, Rosenberg, Shai, Giry, Marine, Marie, Yannick, Duyckaerts, Charles, Sanson, Marc, Figarella‐Branger, Dominique, Idbaih, Ahmed, Desenclos, Christine, Sevestre, Henri, Menei, Philippe, Rousseau, Audrey, Godard, Joel, Viennet, Gabriel, Carpentier, Antoine, Eimer, Sandrine, Loiseau, Hugues, Dam‐Hieu, Phong, Quintin‐Roué, Isabelle, Guillamo, Jean‐Sebastien, Lechapt‐Zalcman, Emmanuelle, Kemeny, Jean‐Louis, Khallil, Toufik, Cazals‐Hatem, Dominique, Faillot, Thierry, Carpiuc, Ioana, Richard, Pomone, Le Guerinel, Caroline, Gaultier, Claude, Tortel, Marie‐Christine, Aubriot‐Lorton, Marie‐Hélène, Ghiringhelli, François, Adam, Clovis, Parker, Fabrice, Maurage, Claude‐Alain, Ramirez, Carole, Marcel Gueye, Edouard, Labrousse, François, Jouvet, Anne, Chinot, Olivier, Bauchet, Luc, Rigau, Valérie, Beauchesne, Patrick, Gauchotte, Guillaume, Campone, Mario, Loussouarn, Delphine, Fontaine, Denys, Vandenbos, Fanny, Blechet, Claire, Fesneau, Mélanie, Yves Delattre, Jean, Elouadhani‐Hamdi, Selma, Ricard, Damien, Larrieu‐Ciron, Delphine, Levillain, Pierre‐Marie, Colin, Philippe, Diebold, Marie‐Danièle, Chiforeanu, Danchristian, Vauléon, Elodie, Langlois, Olivier, Laquerrière, Annie, Motsuo Fotso, Marie Janette, Peocʼh, Michel, Andraud, Marie, Runavot, Gwenaelle, Chenard, Marie‐Pierre, Noel, Georges, Gaillard, Stéphane, Villa, Chiara, Desse, Nicolas, Cohen‐Moyal, Elisabeth, Uro‐Coste, Emmanuelle, and Dhermain, Frédéric

Published
2017
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22. Prognostic Relevance of Histomolecular Classification of Diffuse Adult High-Grade Gliomas with Necrosis

Author

Figarella-Branger, Dominique, Mokhtari, Karima, Colin, Carole, Uro-Coste, Emmanuelle, Jouvet, Anne, Dehais, Caroline, Carpentier, Catherine, Villa, Chiara, Maurage, Claude-Alain, Eimer, Sandrine, Polivka, Marc, Vignaud, Jean-Michel, Laquerriere, Annie, Sevestre, Henri, Lechapt-Zalcman, Emmanuelle, Quintin-Roué, Isabelle, Aubriot-Lorton, Marie-Hélène, Diebold, Marie-Danièle, Viennet, Gabriel, Adam, Clovis, Loussouarn, Delphine, Michalak, Sophie, Rigau, Valérie, Heitzmann, Anne, Vandenbos, Fanny, Forest, Fabien, Chiforeanu, Danchristian, Tortel, Marie-Claire, Labrousse, François, Chenard, Marie-Pierre, Nguyen, Anh Tuan, Varlet, Pascale, Kemeny, Jean Louis, Levillain, Pierre-Marie, Cazals-Hatem, Dominique, Richard, Pomone, and Delattre, Jean-Yves

Published
2015
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23. An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families

Author

Juntas Morales, Raul, primary, Perrin, Aurélien, additional, Solé, Guilhem, additional, Lacourt, Delphine, additional, Pegeot, Henri, additional, Walther-Louvier, Ulrike, additional, Cintas, Pascal, additional, Cances, Claude, additional, Espil, Caroline, additional, Theze, Corinne, additional, Zenagui, Reda, additional, Yauy, Kevin, additional, Cosset, Elodie, additional, Renard, Dimitri, additional, Rigau, Valerie, additional, Maues de Paula, Andre, additional, Uro-Coste, Emmanuelle, additional, Arne-Bes, Marie-Christine, additional, Martin Négrier, Marie-Laure, additional, Leboucq, Nicolas, additional, Acket, Blandine, additional, Malfatti, Edoardo, additional, Biancalana, Valérie, additional, Metay, Corinne, additional, Richard, Pascale, additional, Rendu, John, additional, Rivier, François, additional, Koenig, Michel, additional, and Cossée, Mireille, additional

Published
2021
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24. Novel dominant distal titinopathy phenotype associated with copy number variation

Author

Perrin, Aurélien, primary, Juntas Morales, Raul, additional, Chapon, Françoise, additional, Thèze, Corinne, additional, Lacourt, Delphine, additional, Pégeot, Henri, additional, Uro‐Coste, Emmanuelle, additional, Giovannini, Diane, additional, Leboucq, Nicolas, additional, Mallaret, Martial, additional, Lagrange, Emmeline, additional, Rigau, Valérie, additional, Gaudon, Karen, additional, Richard, Pascale, additional, Koenig, Michel, additional, Métay, Corinne, additional, and Cossée, Mireille, additional

Published
2021
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25. Additional file 12 of Supratentorial non-RELA, ZFTA-fused ependymomas: a comprehensive phenotype genotype correlation highlighting the number of zinc fingers in ZFTA-NCOA1/2 fusions

Author

Tauziède-Espariat, Arnault, Siegfried, Aurore, Nicaise, Yvan, Kergrohen, Thomas, Sievers, Philipp, Vasiljevic, Alexandre, Roux, Alexandre, Dezamis, Edouard, Benevello, Chiara, Machet, Marie-Christine, Michalak, Sophie, Puiseux, Chloe, Llamas-Gutierrez, Francisco, Leblond, Pierre, Bourdeaut, Franck, Grill, Jacques, Dufour, Christelle, Guerrini-Rousseau, Léa, Abbou, Samuel, Dangouloff-Ros, Volodia, Boddaert, Nathalie, Saffroy, Raphaël, Hasty, Lauren, Wahler, Ellen, Pagès, Mélanie, Andreiuolo, Felipe, Lechapt, Emmanuèle, Chrétien, Fabrice, Blauwblomme, Thomas, Beccaria, Kévin, Pallud, Johan, Puget, Stéphanie, Uro-Coste, Emmanuelle, and Varlet, Pascale

Abstract

Additional file 12. Copy number variation profile of case #8.

Published
2021
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26. Additional file 1 of The EP300:BCOR fusion extends the genetic alteration spectrum defining the new tumoral entity of 'CNS tumors with BCOR internal tandem duplication'

Author

Tauziède-Espariat, Arnault, Pierron, Gaëlle, Siegfried, Aurore, Guillemot, Delphine, Uro-Coste, Emmanuelle, Nicaise, Yvan, Castel, David, Catalaa, Isabelle, Larrieu-Ciron, Delphine, Chaynes, Patrick, De Barros, Amaury, Nicolau, Julien, Gareton, Albane, Emmanuèle Lechapt, Chrétien, Fabrice, Bourdeaut, Franck, Doz, François, Bouchoucha, Yassine, Grill, Jacques, Kévin Beccaria, Boddaert, Nathalie, Saffroy, Raphaël, Pagès, Mélanie, and Varlet, Pascale

Abstract

Additional file 1: Table S1. Immunohistochemical findings of our cases of HGNET-BCOR with EP300:BCOR fusion.

Published
2021
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27. Additional file 8 of Supratentorial non-RELA, ZFTA-fused ependymomas: a comprehensive phenotype genotype correlation highlighting the number of zinc fingers in ZFTA-NCOA1/2 fusions

Author

Tauziède-Espariat, Arnault, Siegfried, Aurore, Nicaise, Yvan, Kergrohen, Thomas, Sievers, Philipp, Vasiljevic, Alexandre, Roux, Alexandre, Dezamis, Edouard, Benevello, Chiara, Machet, Marie-Christine, Michalak, Sophie, Puiseux, Chloe, Llamas-Gutierrez, Francisco, Leblond, Pierre, Bourdeaut, Franck, Grill, Jacques, Dufour, Christelle, Guerrini-Rousseau, Léa, Abbou, Samuel, Dangouloff-Ros, Volodia, Boddaert, Nathalie, Saffroy, Raphaël, Hasty, Lauren, Wahler, Ellen, Pagès, Mélanie, Andreiuolo, Felipe, Lechapt, Emmanuèle, Chrétien, Fabrice, Blauwblomme, Thomas, Beccaria, Kévin, Pallud, Johan, Puget, Stéphanie, Uro-Coste, Emmanuelle, and Varlet, Pascale

Abstract

Additional file 8. Copy number variation profile of case #4.

Published
2021
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28. Additional file 7 of Supratentorial non-RELA, ZFTA-fused ependymomas: a comprehensive phenotype genotype correlation highlighting the number of zinc fingers in ZFTA-NCOA1/2 fusions

Author

Tauziède-Espariat, Arnault, Siegfried, Aurore, Nicaise, Yvan, Kergrohen, Thomas, Sievers, Philipp, Vasiljevic, Alexandre, Roux, Alexandre, Dezamis, Edouard, Benevello, Chiara, Machet, Marie-Christine, Michalak, Sophie, Puiseux, Chloe, Llamas-Gutierrez, Francisco, Leblond, Pierre, Bourdeaut, Franck, Grill, Jacques, Dufour, Christelle, Guerrini-Rousseau, Léa, Abbou, Samuel, Dangouloff-Ros, Volodia, Boddaert, Nathalie, Saffroy, Raphaël, Hasty, Lauren, Wahler, Ellen, Pagès, Mélanie, Andreiuolo, Felipe, Lechapt, Emmanuèle, Chrétien, Fabrice, Blauwblomme, Thomas, Beccaria, Kévin, Pallud, Johan, Puget, Stéphanie, Uro-Coste, Emmanuelle, and Varlet, Pascale

Abstract

Additional file 7. Copy number variation profile of case #3.

Published
2021
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29. Additional file 6 of Supratentorial non-RELA, ZFTA-fused ependymomas: a comprehensive phenotype genotype correlation highlighting the number of zinc fingers in ZFTA-NCOA1/2 fusions

Author

Tauziède-Espariat, Arnault, Siegfried, Aurore, Nicaise, Yvan, Kergrohen, Thomas, Sievers, Philipp, Vasiljevic, Alexandre, Roux, Alexandre, Dezamis, Edouard, Benevello, Chiara, Machet, Marie-Christine, Michalak, Sophie, Puiseux, Chloe, Llamas-Gutierrez, Francisco, Leblond, Pierre, Bourdeaut, Franck, Grill, Jacques, Dufour, Christelle, Guerrini-Rousseau, Léa, Abbou, Samuel, Dangouloff-Ros, Volodia, Boddaert, Nathalie, Saffroy, Raphaël, Hasty, Lauren, Wahler, Ellen, Pagès, Mélanie, Andreiuolo, Felipe, Lechapt, Emmanuèle, Chrétien, Fabrice, Blauwblomme, Thomas, Beccaria, Kévin, Pallud, Johan, Puget, Stéphanie, Uro-Coste, Emmanuelle, and Varlet, Pascale

Abstract

Additional file 6. Copy number variation profile of case #2.

Published
2021
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30. Additional file 5 of Supratentorial non-RELA, ZFTA-fused ependymomas: a comprehensive phenotype genotype correlation highlighting the number of zinc fingers in ZFTA-NCOA1/2 fusions

Author

Tauziède-Espariat, Arnault, Siegfried, Aurore, Nicaise, Yvan, Kergrohen, Thomas, Sievers, Philipp, Vasiljevic, Alexandre, Roux, Alexandre, Dezamis, Edouard, Benevello, Chiara, Machet, Marie-Christine, Michalak, Sophie, Puiseux, Chloe, Llamas-Gutierrez, Francisco, Leblond, Pierre, Bourdeaut, Franck, Grill, Jacques, Dufour, Christelle, Guerrini-Rousseau, Léa, Abbou, Samuel, Dangouloff-Ros, Volodia, Boddaert, Nathalie, Saffroy, Raphaël, Hasty, Lauren, Wahler, Ellen, Pagès, Mélanie, Andreiuolo, Felipe, Lechapt, Emmanuèle, Chrétien, Fabrice, Blauwblomme, Thomas, Beccaria, Kévin, Pallud, Johan, Puget, Stéphanie, Uro-Coste, Emmanuelle, and Varlet, Pascale

Abstract

Additional file 5. Copy number variation profile of case #1.

Published
2021
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31. Radiotherapy‐PCV versus radiotherapy‐temozolomide for IDH ‐mutant anaplastic astrocytoma: a retrospective multicentre analysis of the French POLA cohort

Author

Esteyrie, Vincent, Dehais, Caroline, Martin, Elodie, Carpentier, Catherine, Uro‐Coste, Emmanuelle, Figarella‑Branger, Dominique, Bronniman, Charlotte, Pouessel, Damien, Ciron, Delphine Larrieu, Ducray, François, Moyal, Elizabeth Cohen‐Jonathan, Institut de neurophysiopathologie (INP), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Anatomie Pathologique-Neuropathologique [AP-HM Hôpital La Timone], and Hôpital de la Timone [CHU - APHM] (TIMONE)

Subjects
[SDV]Life Sciences [q-bio], ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2021

32. PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum

Author

Alhalabi, Karam T., Stichel, Damian, Sievers, Philipp, Peterziel, Heike, Sommerkamp, Alexander C., Sturm, Dominik, Wittmann, Andrea, Sill, Martin, Jäger, Natalie, Beck, Pengbo, Pajtler, Kristian Wilfried, Snuderl, Matija, Jour, George, Delorenzo, Michael, Martin, Allison M., Levy, Adam, Dalvi, Nagma, Hansford, Jordan R., Gottardo, Nicholas G., Uro-Coste, Emmanuelle, Maurage, Claude-Alain, Godfraind, Catherine, Vandenbos, Fanny, Pietsch, Torsten, Kramm, Christof M., Filippidou, Maria, Kattamis, Antonis, Jones, Chris, Øra, Ingrid, Mikkelsen, Torben Stamm, Zapotocky, Michal, Sumerauer, David, Scheie, David, McCabe, Martin, Wesseling, Pieter, Tops, Bastiaan B. J., Kranendonk, Mariëtte E. G., Karajannis, Matthias A., Bouvier, Nancy, Papaemmanuil, Elli, Dohmen, Hildegard, Acker, Till, Hoff, Katja von, Schmid, Simone, Miele, Evelina, Filipski, Katharina Johanna, Kitanovski, Lidija, Krskova, Lenka, Gojo, Johannes, Haberler, Christine, Alvaro, Frank, Ecker, Jonas, Selt, Florian, Milde, Till, Witt, Olaf, Oehme, Ina, Kool, Marcel, Deimling, Andreas von, Korshunov, Andrey, Pfister, Stefan, Sahm, Felix, Jones, David T. W., Alhalabi, Karam T., Stichel, Damian, Sievers, Philipp, Peterziel, Heike, Sommerkamp, Alexander C., Sturm, Dominik, Wittmann, Andrea, Sill, Martin, Jäger, Natalie, Beck, Pengbo, Pajtler, Kristian Wilfried, Snuderl, Matija, Jour, George, Delorenzo, Michael, Martin, Allison M., Levy, Adam, Dalvi, Nagma, Hansford, Jordan R., Gottardo, Nicholas G., Uro-Coste, Emmanuelle, Maurage, Claude-Alain, Godfraind, Catherine, Vandenbos, Fanny, Pietsch, Torsten, Kramm, Christof M., Filippidou, Maria, Kattamis, Antonis, Jones, Chris, Øra, Ingrid, Mikkelsen, Torben Stamm, Zapotocky, Michal, Sumerauer, David, Scheie, David, McCabe, Martin, Wesseling, Pieter, Tops, Bastiaan B. J., Kranendonk, Mariëtte E. G., Karajannis, Matthias A., Bouvier, Nancy, Papaemmanuil, Elli, Dohmen, Hildegard, Acker, Till, Hoff, Katja von, Schmid, Simone, Miele, Evelina, Filipski, Katharina Johanna, Kitanovski, Lidija, Krskova, Lenka, Gojo, Johannes, Haberler, Christine, Alvaro, Frank, Ecker, Jonas, Selt, Florian, Milde, Till, Witt, Olaf, Oehme, Ina, Kool, Marcel, Deimling, Andreas von, Korshunov, Andrey, Pfister, Stefan, Sahm, Felix, and Jones, David T. W.

Abstract

Large-scale molecular profiling studies in recent years have shown that central nervous system (CNS) tumors display a much greater heterogeneity in terms of molecularly distinct entities, cellular origins and genetic drivers than anticipated from histological assessment. DNA methylation profiling has emerged as a useful tool for robust tumor classification, providing new insights into these heterogeneous molecular classes. This is particularly true for rare CNS tumors with a broad morphological spectrum, which are not possible to assign as separate entities based on histological similarity alone. Here, we describe a molecularly distinct subset of predominantly pediatric CNS neoplasms (n = 60) that harbor PATZ1 fusions. The original histological diagnoses of these tumors covered a wide spectrum of tumor types and malignancy grades. While the single most common diagnosis was glioblastoma (GBM), clinical data of the PATZ1-fused tumors showed a better prognosis than typical GBM, despite frequent relapses. RNA sequencing revealed recurrent MN1:PATZ1 or EWSR1:PATZ1 fusions related to (often extensive) copy number variations on chromosome 22, where PATZ1 and the two fusion partners are located. These fusions have individually been reported in a number of glial/glioneuronal tumors, as well as extracranial sarcomas. We show here that they are more common than previously acknowledged, and together define a biologically distinct CNS tumor type with high expression of neural development markers such as PAX2, GATA2 and IGF2. Drug screening performed on the MN1:PATZ1 fusion-bearing KS-1 brain tumor cell line revealed preliminary candidates for further study. In summary, PATZ1 fusions define a molecular class of histologically polyphenotypic neuroepithelial tumors, which show an intermediate prognosis under current treatment regimens.

Published
2021

33. Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

Author

Chauveau, Claire, Bonnemann, Carsten G., Julien, Cedric, Kho, Ay Lin, Marks, Harold, Talim, Beril, Maury, Philippe, Arne-Bes, Marie Christine, Uro-Coste, Emmanuelle, Alexandrovich, Alexander, Vihola, Anna, Schafer, Sebastian, Kaufmann, Beth, Medne, Livija, Hübner, Norbert, Foley, A. Reghan, Santi, Mariarita, Udd, Bjarne, Topaloglu, Haluk, Moore, Steven A., Gotthardt, Michael, Samuels, Mark E., Gautel, Mathias, and Ferreiro, Ana

Published
2014
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35. Additional file 5 of Pediatric methylation class HGNET-MN1: unresolved issues with terminology and grading

Author

Tauziède-Espariat, Arnault, Pagès, Mélanie, Roux, Alexandre, Siegfried, Aurore, Uro-Coste, Emmanuelle, Nicaise, Yvan, Sevely, Annick, Gambart, Marion, Boetto, Sergio, Dupuy, Martin, Pomone Richard, Perbet, Romain, Vinchon, Matthieu, Caron, Sabine, Andreiuolo, Felipe, Gareton, Albane, Emmanuèle Lechapt, Chrétien, Fabrice, Puget, Stéphanie, Grill, Jacques, Boddaert, Nathalie, and Varlet, Pascale

Abstract

Additional file 5: Table S1. Immunoprofile of HGNET-MN1 of our series

Published
2020
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36. Radiotherapy Plus Procarbazine, Lomustine, and Vincristine Versus Radiotherapy Plus Temozolomide for IDH-Mutant Anaplastic Astrocytoma: A Retrospective Multicenter Analysis of the French POLA Cohort

Author

Esteyrie, Vincent, primary, Dehais, Caroline, additional, Martin, Elodie, additional, Carpentier, Catherine, additional, Uro-Coste, Emmanuelle, additional, Figarella-Branger, Dominique, additional, Bronniman, Charlotte, additional, Pouessel, Damien, additional, Ciron, Delphine Larrieu, additional, Ducray, François, additional, Moyal, Elizabeth Cohen-Jonathan, additional, and Network, Pola, additional

Published
2021
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37. Immunopathogenesis and proposed clinical score for identifying Kelch-like protein-11 encephalitis

Author

Vogrig, Alberto, primary, Péricart, Sarah, additional, Pinto, Anne-Laurie, additional, Rogemond, Véronique, additional, Muñiz-Castrillo, Sergio, additional, Picard, Géraldine, additional, Selton, Marion, additional, Mittelbronn, Michel, additional, Lanoiselée, Hélène-Marie, additional, Michenet, Patrick, additional, Benaiteau, Marie, additional, Pariente, Jérémie, additional, Zéphir, Helene, additional, Giordana, Caroline, additional, Montaut, Solveig, additional, Salhi, Hayet, additional, Bachoumas, Panagiotis, additional, Montcuquet, Alexis, additional, Letovanec, Igor, additional, Uro-Coste, Emmanuelle, additional, and Honnorat, Jérôme, additional

Published
2021
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38. Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy

Author

Géraud, Justine, primary, Dieterich, Klaus, additional, Rendu, John, additional, Uro Coste, Emmanuelle, additional, Dobrzynski, Murielle, additional, Marcorelle, Pascale, additional, Ioos, Christine, additional, Romero, Norma Beatriz, additional, Baudou, Eloise, additional, Brocard, Julie, additional, Coville, Anne-Cécile, additional, Fauré, Julien, additional, Koenig, Michel, additional, Juntas Morales, Raul, additional, Lacène, Emmanuelle, additional, Madelaine, Angéline, additional, Marty, Isabelle, additional, Pegeot, Henri, additional, Theze, Corinne, additional, Siegfried, Aurore, additional, Cossee, Mireille, additional, and Cances, Claude, additional

Published
2020
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39. Translation reprogramming by eIF3 linked to glioblastoma resistance

Author

Bertorello, Juliette, primary, Sesen, Julie, additional, Gilhodes, Julia, additional, Evrard, Solène, additional, Courtade-Saïdi, Monique, additional, Augustus, Meera, additional, Uro-Coste, Emmanuelle, additional, Toulas, Christine, additional, Moyal, Elizabeth Cohen-Jonathan, additional, Seva, Catherine, additional, Dassi, Erik, additional, Cammas, Anne, additional, Skuli, Nicolas, additional, and Millevoi, Stefania, additional

Published
2020
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40. Which Method for Diagnosing Small Fiber Neuropathy?

Author

Fabry, Vincent, primary, Gerdelat, Angélique, additional, Acket, Blandine, additional, Cintas, Pascal, additional, Rousseau, Vanessa, additional, Uro-Coste, Emmanuelle, additional, Evrard, Solène M., additional, and Pavy-Le Traon, Anne, additional

Published
2020
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42. An integrative histopathological and epigenetic characterization of primary intracranial mesenchymal tumors, FET:CREB‐fused broadening the spectrum of tumor entities in comparison with their soft tissue counterparts.

Author

Tauziède‐Espariat, Arnault, Sievers, Philipp, Larousserie, Frédérique, Benzakoun, Joseph, Guillemot, Delphine, Pierron, Gaëlle, Duchesne, Mathilde, Uro‐Coste, Emmanuelle, Roux, Alexandre, Vasiljevic, Alexandre, Fenouil, Tanguy, Meyronet, David, Mokhtari, Karima, Polivka, Marc, Rousseau, Audrey, Bost‐Bezeaud, Frédérique, Akoury, Samir, Pallud, Johan, Benevello, Chiara, and Hasty, Lauren

Subjects
INTRACRANIAL tumors, CENTRAL nervous system tumors, BRAIN tumors, EPIGENETICS, HIERARCHICAL clustering (Cluster analysis)
Abstract

FET:CREB fusions have been described in a variety of tumors from various phenotypes. Recently, these fusion transcripts were reported in intracranial tumors, variably named intracranial mesenchymal myxoid tumors or angiomatoid fibrous histiocytomas. Controversy remains concerning the terminology for these tumors. Here, we report 11 cases of central nervous system mesenchymal tumors with proven FET:CREB fusion. Most DNA methylation profiles were not classifiable using the Heidelberg Brain Tumor or Sarcoma Classifier (v11b4/v12.2). However, by using unsupervised t‐SNE and hierarchical clustering analyses, six of the cases constituted a distinct cluster. The remaining four tumors showed no obvious relation to any of the other referenced classes but were close to the clusters of extra‐CNS angiomatoid fibrous histiocytomas (n = 1), clear cell sarcomas (n = 1), or solitary fibrous tumors (n = 2). Our findings confirm that intracranial FET:CREB‐fused tumors do not represent a single molecular tumor entity, although most samples clustered close to each other, indicating the existence of a distinct epigenetic group that could potentially be partially masked by the low number of cases included. Further analyses are needed to characterize intracranial FET:CREB fused‐defined tumors in more detail. [ABSTRACT FROM AUTHOR]

Published
2022
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44. NCOA4-RET and TRIM27-RET are Characteristic Gene Fusions in Salivary Intraductal Carcinoma, Including Invasive and Metastatic Tumors: Is 'Intraductal' Correct?

Author

Skálová, Alena, Ptáková, Nikola, Santana, Thalita, Agaimy, Abbas, Ihrler, Stephan, Uro-Coste, Emmanuelle, Thompson, Lester D R, Bishop, Justin A, Baněčkova, Martina, Rupp, Niels J, Morbini, Patrizia, de Sanctis, Stefano, Schiavo-Lena, Marco, Vanecek, Tomas, Michal, Michal, Leivo, Ilmo, University of Zurich, and Skálová, Alena

Subjects
2734 Pathology and Forensic Medicine, 10049 Institute of Pathology and Molecular Pathology, 610 Medicine & health, 2702 Anatomy, 2746 Surgery
Published
2019

45. A genome-wide association study identifies susceptibility loci for primary central nervous system lymphoma at 6p25.3 and 3p22.1: a LOC Network study

Author

Labreche, Karim, Daniau, Mailys, Sud, Amit, Law, Philip, Royer-Perron, Louis, Holroyd, Amy, Broderick, Peter, Went, Molly, Benazra, Marion, Ahle, Guido, Soubeyran, Pierre, Taillandier, Luc, Chinot, Olivier, Casasnovas, Olivier, Bay, Jacques-Olivier, Jardin, Fabrice, Oberic, Lucie, Fabbro, Michel, Damaj, Gandhi, Brion, Annie, Mokhtari, Karima, Philippe, Cathy, Sanson, Marc, Houillier, Caroline, Soussain, Carole, Hoang-Xuan, Khê, Houlston, Richard, Alentorn, Agusti, Moles-Moreau, Marie-Pierre, Gressin, Rémy, Morschhauser, Franck, Agapé, Philippe, Jaccard, Arnaud, Ghesquières, Hervé, Tempescul, Adrian, Gyan, Emmanuel, Marolleau, Jean-Pierre, Houot, Roch, Fornecker, Luc, Stefano, Anna-Luisa Di, Detrait, Ines, Rahimian, Amithys, Lathrop, Mark, Genet, Diane, Davi, Frederic, Cassoux, Nathalie, Touitou, Valérie, Choquet, Sylvain, Vital, Anne, Polivka, Marc, Figarella-Branger, Dominique, Benouaich-Amiel, Alexandra, Campello, Chantal, Charlotte, Fréderic, Martin-Duverneuil, Nadine, Feuvret, Loïc, Kas, Aurélie, Navarro, Soledad, Villa, Chiara, Bielle, Franck, Chrétien, Fabrice, Tortel, Marie Christine, Gauchotte, Guillaume, Uro-Coste, Emmanuelle, Godfrain, Catherine, Rigau, Valérie, Costopoulos, Myrto, Garff-Tavernier, Magalie Le, Meyronnet, David, Rousseau, Audrey, Adam, Clovis, Lamy, Thierry, Chabrot, Cécile, Boyle, Eileen, Blonski, Marie, Schmitt, Anna, The institute of cancer research [London], Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Microsoft Research [Redmond], Microsoft Corporation [Redmond, Wash.], Cancer Genetics, Institute of cancer research, Service de Neurologie [Hôpitaux Civils de Colmar], Hôpitaux Civils Colmar, Plateforme de génétique moléculaire des cancers d'Aquitaine, Institut Bergonié [Bordeaux], UNICANCER-UNICANCER, Centre de Recherche en Automatique de Nancy (CRAN), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Centre de Recherches en Oncologie biologique et Oncopharmacologie (CRO2), Aix Marseille Université (AMU)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Hématologie Clinique (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Role of intra-Clonal Heterogeneity and Leukemic environment in ThErapy Resistance of chronic leukemias (CHELTER), Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Universitaire du Cancer de Toulouse - Oncopole (IUCT Oncopole - UMR 1037), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM), UNICANCER - Institut régional du Cancer Montpellier Val d'Aurelle (ICM), CRLCC Val d'Aurelle - Paul Lamarque, Laboratoire d'Hématologie [CHU Amiens], CHU Amiens-Picardie, Service d'hématologie, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Université des sciences et de la Technologie d'Oran Mohamed Boudiaf [Oran] (USTO MB), Institut de Radiobiologie Cellulaire et Moléculaire (IRCM), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CRLCC René Huguenin, Biologie des Interactions Neurones / Glie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire d'hématologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Institut d'oncologie/développement Albert Bonniot de Grenoble (INSERM U823), Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Biophysique, Médecine Nucléaire et Technologies Médicales (EA 1049), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Contrôle de la Réponse Immune B et des Lymphoproliférations (CRIBL), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL), CHRU Brest - Service d'Hématologie (CHU-Brest-Hemato), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Service d'hématologie [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Service clinique des Maladies du Sang, CHU Pontchaillou [Rennes], Laboratoire de Spectrométrie de Masse BioOrganique [Strasbourg] (LSMBO), Département Sciences Analytiques et Interactions Ioniques et Biomoléculaires (DSA-IPHC), Institut Pluridisciplinaire Hubert Curien (IPHC), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-Institut Pluridisciplinaire Hubert Curien (IPHC), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), McGill University = Université McGill [Montréal, Canada], Institut Curie [Paris], Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Hôpital Lariboisière, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Service d'Anatomo-Cyto-Pathologie et de NeuroPathologie [Hôpital de la Timone - APHM] (ACPNP), Aix Marseille Université (AMU)- Hôpital de la Timone [CHU - APHM] (TIMONE), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Laboratoire d'Imagerie Biomédicale [Paris] (LIB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre de Psychiatrie et Neurosciences (U894), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Oto-Rhino-Laryngologie et de Chirurgie Cervico-Faciale [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Institut de mécanique des fluides de Toulouse (IMFT), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT), Service de Biopathologie [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Service d'hématologie clinique, Université de Rennes (UR)-Hôpital Pontchaillou, CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand, Hôpital Claude Huriez [Lille], CHU Lille, Service de Neuro-Oncologie [CHRU Nancy], UNICANCER, Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM), USTO (USTO), Centre de référence sur les démences rares et maladie de Pick, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Institut Pluridisciplinaire Hubert Curien (IPHC), Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Service d'Hématologie clinique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Paris Diderot - Paris 7 (UPD7)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Rangueil, Service d'Hépato-Gastro-Entérologie [CHU Pitié-Salpêtrière], Service de Radiothérapie [CHU Pitié-Salpêtrière], Laboratoire d'Imagerie Biomédicale (LIB), Service de Neurochirurgie [CHU Pitié-Salpêtrière], Institut de psychiatrie et neurosciences (U894 / UMS 1266), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées, Service de neuro-pathologie [CHU Pitié-Salpêtrière], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique (CNRS), Institut Bergonié - CRLCC Bordeaux, Unité de transplantation médullaire et laboratoire d'oncologie moléculaire, CRLCC Jean Perrin, UNICANCER - Institut régional du Cancer [Montpellier] (ICM), Service hématologie Amiens, Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon)-Hôpital Jean Minjoz, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Hopital d'Amiens, Laboratoire de Spectrométrie de Masse BioOrganique, Département des Sciences Analytiques, Institut Pluridisciplinaire Hubert Curien (LSMBO-DSA-IPHC), Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Université McGill, Service d'Hématologie Clinique [CHU Pitié-Salpêtrière], Institut Curie, Service d'Ophthalmologie, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Lariboisière-Université Paris Diderot - Paris 7 (UPD7), Centre Hospitalier Régional Universitaire de Nîmes (CHRU Nîmes), Service d'Hépato-Gastroentérologie [CHU Pitié-Salpêtrière], Centre de Recherche en Cancérologie de Lyon (CRCL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Hôpital Claude Huriez, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut Bergonié - Département de médecine, Université Bordeaux Segalen - Bordeaux 2-Centre régional de lutte contre le cancer [CRLCC], Centre National de la Recherche Scientifique (CNRS)-Université de Lorraine (UL), CHU Toulouse [Toulouse]-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-EFS-CHU Grenoble-Université Joseph Fourier - Grenoble 1 (UJF), Université de Strasbourg (UNISTRA)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-Institut Pluridisciplinaire Hubert Curien (IPHC), Université de Strasbourg (UNISTRA)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Service d'Oncologie Radiothérapie [CHU Pitié Salpétrière], and Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
Central Nervous System, Cancer Research, Genome-wide association study, Single-nucleotide polymorphism, [SDV.CAN]Life Sciences [q-bio]/Cancer, Biology, Central Nervous System Neoplasms, 03 medical and health sciences, 0302 clinical medicine, primary CNS lymphoma, hemic and lymphatic diseases, medicine, Genetic predisposition, Humans, GWAS, 1000 Genomes Project, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, Genetics, 0303 health sciences, Lymphoma, Non-Hodgkin, Primary central nervous system lymphoma, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, medicine.disease, cancer susceptibility, 3. Good health, Lymphoma, Oncology, 030220 oncology & carcinogenesis, Basic and Translational Investigations, Neurology (clinical), Lymphoma, Large B-Cell, Diffuse, Diffuse large B-cell lymphoma, Imputation (genetics), Genome-Wide Association Study
Abstract

BackgroundPrimary central nervous system lymphoma (PCNSL) is a rare form of extra-nodal non-Hodgkin lymphoma. PCNSL is a distinct subtype of non-Hodgkin lymphoma, with over 95% of tumors belonging to the diffuse large B-cell lymphoma (DLBCL) group. We have conducted a genome-wide association study (GWAS) on immunocompetent patients to address the possibility that common genetic variants influence the risk of developing PCNSL.MethodsWe performed a meta-analysis of 2 new GWASs of PCNSL totaling 475 cases and 1134 controls of European ancestry. To increase genomic resolution, we imputed >10 million single nucleotide polymorphisms using the 1000 Genomes Project combined with UK10K as reference. In addition we performed a transcription factor binding disruption analysis and investigated the patterns of local chromatin by Capture Hi-C data.ResultsWe identified independent risk loci at 3p22.1 (rs41289586, ANO10, P = 2.17 × 10−8) and 6p25.3 near EXOC2 (rs116446171, P = 1.95 x 10−13). In contrast, the lack of an association between rs41289586 and DLBCL suggests distinct germline predisposition to PCNSL and DLBCL. We found looping chromatin interactions between noncoding regions at 6p25.3 (rs11646171) with the IRF4 promoter and at 8q24.21 (rs13254990) with the MYC promoter, both genes with strong relevance to B-cell tumorigenesis.ConclusionTo our knowledge this is the first study providing insight into the genetic predisposition to PCNSL. Our findings represent an important step in defining the contribution of common genetic variation to the risk of developing PCNSL.

Published
2019

47. Genetic and Expression Profiles of Cerebellar Liponeurocytomas

Author

Horstmann, Sonja, Perry, Arie, Reifenberger, Guido, Giangaspero, Felice, Huang, Herve, Hara, Akira, Masuoka, Jun, Rainov, Nikolai G., Bergmann, Markus, Heppner, Frank L., Brandner, Sebastian, Chimelli, Leila, Montagna, Nádia, Jackson, Thad, Davis, Daron G., Markesbery, William R., Ellison, David W., Weller, Roy O., Taddei, Gian L., Conti, Renato, Del Bigio, Marc R., González-Cámpora, Ricardo, Radhakrishnan, V.V., Söylemezoglu, Figen, Uro-Coste, Emmanuelle, Qian, Jiang, Kleihues, Paul, and Ohgaki, Hiroko

Published
2004

48. MEDU-11. MOLECULAR CHARACTERIZATION OF ETMRs REVEALS A ROLE FOR R-LOOP MEDIATED CHROMOSOMAL INSTABILITY

Author

Lambo, Sander, primary, Gröbner, Susanne, additional, Rausch, Tobias, additional, Waszak, Sebastian, additional, Schmidt, Christin, additional, Gorthi, Aparna, additional, Romero, Carolina, additional, Mauermann, Monika, additional, Brabetz, Sebastian, additional, Krausert, Sonja, additional, Uro-Coste, Emmanuelle, additional, Bourdeaut, Franck, additional, Huang, Annie, additional, Bishop, Alexander, additional, Pfister, Stefan, additional, Korshunov, Andrey, additional, and Kool, Marcel, additional

Published
2019
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49. CDKN2A homozygous deletion is a strong adverse prognosis factor in diffuse malignant IDH-mutant gliomas.

Author

Appay, Romain, Dehais, Caroline, Maurage, Claude-Alain, Alentorn, Agusti, Carpentier, Catherine, Colin, Carole, Ducray, François, Escande, Fabienne, Idbaih, Ahmed, Kamoun, Aurélie, Marie, Yannick, Mokhtari, Karima, Tabouret, Emeline, Trabelsi, Nesrine, Uro-Coste, Emmanuelle, Delattre, Jean-Yves, Figarella-Branger, Dominique, and Network, POLA

Published
2019
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50. EWSR1‐PATZ1gene fusion may define a new glioneuronal tumor entity

Author

Siegfried, Aurore, primary, Rousseau, Audrey, additional, Maurage, Claude‐Alain, additional, Pericart, Sarah, additional, Nicaise, Yvan, additional, Escudie, Fréderic, additional, Grand, David, additional, Delrieu, Alix, additional, Gomez‐Brouchet, Anne, additional, Le Guellec, Sophie, additional, Franchet, Camille, additional, Boetto, Sergio, additional, Vinchon, Matthieu, additional, Sol, Jean‐Christophe, additional, Roux, Franck‐Emmanuel, additional, Rigau, Valérie, additional, Bertozzi, Anne‐Isabelle, additional, Jones, David T. W., additional, Figarella‐Branger, Dominique, additional, and Uro‐Coste, Emmanuelle, additional

Published
2018
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