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102. Transmission of amyloid-beta and tau pathologies is associated with cognitive impairments in a primate.

Author

Lam, Suzanne, Petit, Fanny, Hérard, Anne-Sophie, Boluda, Susana, Eddarkaoui, Sabiha, Guillermier, Martine, The Brain Bank Neuro-C. E. B. Neuropathology Network, Letournel, Franck, Martin-Négrier, Marie-Laure, Faisant, Maxime, Godfraind, Catherine, Boutonnat, Jean, Maurage, Claude-Alain, Deramecourt, Vincent, Duchesne, Mathilde, Meyronet, David, Fenouil, Tanguy, de Paula, André Mauès, Rigau, Valérie, and Vandenbos-Burel, Fanny

Subjects
TAU proteins, NEUROFIBRILLARY tangles, COGNITION disorders, ENTORHINAL cortex, CINGULATE cortex, INTRACRANIAL hemorrhage, CEREBRAL atrophy
Abstract

Amyloid-β (Aβ) pathology transmission has been described in patients following iatrogenic exposure to compounds contaminated with Aβ proteins. It can induce cerebral Aβ angiopathy resulting in brain hemorrhages and devastating clinical impacts. Iatrogenic transmission of tau pathology is also suspected but not experimentally proven. In both scenarios, lesions were detected several decades after the putatively triggering medico-surgical act. There is however little information regarding the cognitive repercussions in individuals who do not develop cerebral hemorrhages. In the current study, we inoculated the posterior cingulate cortex and underlying corpus callosum of young adult primates (Microcebus murinus) with either Alzheimer's disease or control brain extracts. This led to widespread Aβ and tau pathologies in all of the Alzheimer-inoculated animals following a 21-month-long incubation period (n = 12) whereas none of the control brain extract-inoculated animals developed such lesions (n = 6). Aβ deposition affected almost all cortical regions. Tau pathology was also detected in Aβ-deposit-free regions distant from the inoculation sites (e.g. in the entorhinal cortex), while some regions adjacent, but not connected, to the inoculation sites were spared (e.g. the occipital cortex). Alzheimer-inoculated animals developed cognitive deficits and cerebral atrophy compared to controls. These pathologies were induced using two different batches of Alzheimer brain extracts. This is the first experimental demonstration that tau can be transmitted by human brain extracts inoculations in a primate. We also showed for the first time that the transmission of widespread Aβ and tau pathologies can be associated with cognitive decline. Our results thus reinforce the need to organize a systematic monitoring of individuals who underwent procedures associated with a risk of Aβ and tau iatrogenic transmission. They also provide support for Alzheimer brain-inoculated primates as relevant models of Alzheimer pathology. [ABSTRACT FROM AUTHOR]

Published
2021
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103. Characterisation of tumour microenvironment and immune checkpoints in primary central nervous system diffuse large B cell lymphomas

Author

Alame, Melissa, primary, Pirel, Marion, additional, Costes-Martineau, Valérie, additional, Bauchet, Luc, additional, Fabbro, Michel, additional, Tourneret, Alicia, additional, De Oliveira, Laura, additional, Durand, Luc, additional, Roger, Pascal, additional, Gonzalez, Samia, additional, Cacheux, Valère, additional, Rigau, Valérie, additional, and Szablewski, Vanessa, additional

Published
2019
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104. An epidemiology report for primary central nervous system tumors in adolescents and young adults: a nationwide population-based study in France, 2008–2013

Author

Ng, Sam, primary, Zouaoui, Sonia, primary, Bessaoud, Faiza, primary, Rigau, Valérie, primary, Roux, Alexandre, primary, Darlix, Amélie, primary, Bauchet, Fabienne, primary, Mathieu-Daudé, Hélène, primary, Trétarre, Brigitte, primary, Figarella-Branger, Dominique, primary, Pallud, Johan, primary, Frappaz, Didier, primary, Roujeau, Thomas, primary, and Bauchet, Luc, primary

Published
2019
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105. CLIPPERS and its mimics: evaluation of new criteria for the diagnosis of CLIPPERS

Author

Taieb, Guillaume, primary, Mulero, Patricia, additional, Psimaras, Dimitri, additional, van Oosten, Bob W, additional, Seebach, Jörg D., additional, Marignier, Romain, additional, Pico, Fernando, additional, Rigau, Valérie, additional, Ueno, Yuji, additional, Duflos, Claire, additional, Fominykh, Vera, additional, Guiraud, Vincent, additional, Lebrun-Frénay, Christine, additional, Camdessanché, Jean-Philippe, additional, Kerschen, Philippe, additional, Ahle, Guido, additional, Téllez, Nieves, additional, Rovira, Alex, additional, Hoang-Xuan, Khe, additional, Pelletier, Jean, additional, and Labauge, Pierre, additional

Published
2019
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106. CHI3L1, NTRK2, 1p/19q and IDH Status Predicts Prognosis in Glioma

Author

Deluche, Elise, primary, Bessette, Barbara, additional, Durand, Stephanie, additional, Caire, François, additional, Rigau, Valérie, additional, Robert, Sandrine, additional, Chaunavel, Alain, additional, Forestier, Lionel, additional, Labrousse, François, additional, Jauberteau, Marie-Odile, additional, Durand, Karine, additional, and Lalloué, Fabrice, additional

Published
2019
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108. N‐homocysteinylation of tau and MAP1 is increased in autopsy specimens of Alzheimer's disease and vascular dementia

Author

Bossenmeyer‐Pourié, Carine, primary, Smith, A David, additional, Lehmann, Sylvain, additional, Deramecourt, Vincent, additional, Sablonnière, Bernard, additional, Camadro, Jean‐Michel, additional, Pourié, Grégory, additional, Kerek, Racha, additional, Helle, Deborah, additional, Umoret, Remy, additional, Guéant‐Rodriguez, Rosa‐Maria, additional, Rigau, Valérie, additional, Gabelle, Audrey, additional, Sequeira, Jeffrey M, additional, Quadros, Edward V, additional, Daval, Jean‐Luc, additional, and Guéant, Jean‐Louis, additional

Published
2019
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109. Isolation of mineralizing Nestin+ Nkx6.1+ vascular muscular cells from the adult human spinal cord

Author

Guillon Hélène, Rigau Valérie, Privat Alain, Lidereau Rosette, Bieche Ivan, Rothhut Bernard, Perrin Florence E, Teigell Marisa, Bony Claire, Ripoll Chantal, Mamaeva Daria, Vachiery-Lahaye Florence, Noel Daniele, Bauchet Luc, and Hugnot Jean-Philippe

Subjects
human central nervous system, spinal cord, stem cells, vascular muscle cells, osteogenesis, Nkx6.1, calcification, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurophysiology and neuropsychology, QP351-495
Abstract

Abstract Background The adult central nervous system (CNS) contains different populations of immature cells that could possibly be used to repair brain and spinal cord lesions. The diversity and the properties of these cells in the human adult CNS remain to be fully explored. We previously isolated Nestin+ Sox2+ neural multipotential cells from the adult human spinal cord using the neurosphere method (i.e. non adherent conditions and defined medium). Results Here we report the isolation and long term propagation of another population of Nestin+ cells from this tissue using adherent culture conditions and serum. QPCR and immunofluorescence indicated that these cells had mesenchymal features as evidenced by the expression of Snai2 and Twist1 and lack of expression of neural markers such as Sox2, Olig2 or GFAP. Indeed, these cells expressed markers typical of smooth muscle vascular cells such as Calponin, Caldesmone and Acta2 (Smooth muscle actin). These cells could not differentiate into chondrocytes, adipocytes, neuronal and glial cells, however they readily mineralized when placed in osteogenic conditions. Further characterization allowed us to identify the Nkx6.1 transcription factor as a marker for these cells. Nkx6.1 was expressed in vivo by CNS vascular muscular cells located in the parenchyma and the meninges. Conclusion Smooth muscle cells expressing Nestin and Nkx6.1 is the main cell population derived from culturing human spinal cord cells in adherent conditions with serum. Mineralization of these cells in vitro could represent a valuable model for studying calcifications of CNS vessels which are observed in pathological situations or as part of the normal aging. In addition, long term propagation of these cells will allow the study of their interaction with other CNS cells and their implication in scar formation during spinal cord injury.

Published
2011
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111. Management, functional outcomes and survival in a French multicentric series of 118 adult patients with cerebellar glioblastoma.

Author

Picart, Thiébaud, Meyronet, David, Pallud, Johan, Dumot, Chloé, Metellus, Philippe, Zouaoui, Sonia, Berhouma, Moncef, Ducray, François, Bauchet, Luc, Guyotat, Jacques, French Brain Tumor DataBase, Bauchet, Fabienne, Mhamed, Rim Ben, Bessaoud, Faiza, Rigau, Valérie, Mathieu-Daudé, Hélène, Darlix, Amélie, Fabbro-Peray, Pascale, Trétarre, Brigitte, and Club de Neuro-Oncologie of the Société Française de Neurochirurgie

Subjects
BRAIN tumors, GLIOBLASTOMA multiforme, SURVIVAL analysis (Biometry), KARNOFSKY Performance Status, CEREBELLAR tumors, CRANIAL nerves
Abstract

Purpose: To analyze the outcomes and predictors in a large series of cerebellar glioblastomas in order to guide patient management. Methods: The French brain tumor database and the Club de Neuro-Oncologie of the Société Française de Neurochirurgie retrospectively identified adult patients with cerebellar glioblastoma diagnosed between 2003 and 2017. Diagnosis was confirmed by a centralized neuropathological review. Results: Data from 118 cerebellar glioblastoma patients were analyzed (mean age 55.9 years, 55.1% males). The clinical presentation associated raised intracranial pressure (50.8%), static cerebellar syndrome (68.6%), kinetic cerebellar syndrome (49.2%) and/or cranial nerve disorders (17.8%). Glioblastomas were hemispheric (55.9%), vermian (14.4%) or both (29.7%). Hydrocephalus was present in 49 patients (41.5%). Histologically, tumors corresponded either to IDH-wild-type or to K27-mutant glioblastomas. Surgery consisted of total (12.7%), subtotal (35.6%), partial resection (33.9%) or biopsy (17.8%). The postoperative Karnofsky performance status was improved, stable and worsened in 22.4%, 43.9% and 33.7% of patients, respectively. Progression-free and overall survivals reached 5.1 months and 9.1 months, respectively. Compared to other surgical strategies, total or subtotal resection improved the Karnofsky performance status (33.3% vs 12.5%, p < 0.001), prolonged progression-free and overall survivals (6.5 vs 4.3 months, p = 0.015 and 16.7 vs 6.2 months, p < 0.001, respectively) and had a comparable complication rate (40.4% vs 31.1%, p = 0.29). After total or subtotal resection, the functional outcomes were correlated with age (p = 0.004) and cerebellar hemispheric tumor location (p < 0.001) but not brainstem infiltration (p = 0.16). Conclusion: In selected patients, maximal resection of cerebellar glioblastoma is associated with improved onco-functional outcomes, compared with less invasive procedures. [ABSTRACT FROM AUTHOR]

Published
2021
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112. PD1 and PDL1 expression in primary central nervous system diffuse large B-cell lymphoma are frequent and expression of PD1 predicts poor survival

Author

Four, Marion, Cacheux, Valère, Tempier, Ariane, Platero, Dolorès, Fabbro, Michel, Marin, Grégory, Leventoux, Nicolas, Rigau, Valérie, Costes-Martineau, Valérie, Szablewski, Vanessa, Service de Biopathologie [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université de Montpellier (UM), UNICANCER - Institut régional du Cancer Montpellier Val d'Aurelle (ICM), CRLCC Val d'Aurelle - Paul Lamarque, Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Pathogénèse et contrôle des infections chroniques (PCCI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Universitaire de Montpellier (CHU Montpellier )-Université de Montpellier (UM), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre Hospitalier Universitaire de Montpellier (CHU Montpellier )

Subjects
Adult, Aged, 80 and over, Male, Programmed Cell Death 1 Receptor, lymphoma, [SDV.CAN]Life Sciences [q-bio]/Cancer, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, Middle Aged, central nervous system, B7-H1 Antigen, Central Nervous System Neoplasms, PD1, immune system diseases, hemic and lymphatic diseases, PDL1, Biomarkers, Tumor, Humans, Female, Lymphoma, Large B-Cell, Diffuse, neoplasms, Aged, Retrospective Studies
Abstract

International audience; Primary central nervous system diffuse large B-cell lymphoma (PCNS-DLBCL) is a rare and aggressive type of diffuse large B-cell lymphoma (DLBCL) whit poorly understood pathogenesis. Finding biomarkers associated with patient survival may be important for understanding its physiopathology and to develop new therapeutic approaches. We investigated 32 PCNS-DLBCL from immunocompetent patients for BCL2, CMYC, LMO2, and P53 expression and for cytogenetic aberrations of BCL2, BCL6, and MYC genes, all known for their prognostic value in systemic DLBCL (s-DLBCL). We analyzed PD1 and PDL1 protein expression in both tumor infiltrating lymphocytes (TILs) and tumor cells. Finally, we searched for correlation between biological data and clinical course. The PCNS-DLBCL expressed BCL2, CMYC, LMO2, and P53 at similar frequency than s-DLBCL but without significant prognostic on survival. None cases harbored aberrations involving BCL2 and MYC gene whereas BCL6 abnormalities were present in 20.7% of cases but without value on survival. Expression of PD1 in TILs and PDL1 in tumor cells was observed at higher rates than in s-DLBCL (58% and 37%, respectively). The PD1 expression in TILs correlated with PDL1 expression in tumor cells (P = .001). Presence of PD1 positive TILs was associated with poorer overall survival (P = .011). Patients with PDL1 overexpression tended to better response to chemotherapy (P = .23). In conclusion PCNS-DLBCL pathogenesis differs from s-DLBCL without prognostic value of the phenotypic and cytogenetic parameters known for their pejorative impact in the latter. The PD1/PDL1 pathway plays a strong role in PCNS-DLBCL and represents an attractive target for this aggressive lymphoma.

Published
2017
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113. Differential transcript usage unravels gene expression alterations in Alzheimer's disease human brains.

Author

Marques-Coelho, Diego, Iohan, Lukas da Cruz Carvalho, Melo de Farias, Ana Raquel, Flaig, Amandine, Letournel, Franck, Martin-Négrier, Marie-Laure, Chapon, Françoise, Faisant, Maxime, Godfraind, Catherine, Maurage, Claude-Alain, Deramecourt, Vincent, Duchesne, Mathilde, Meyronnet, David, Streichenberger, Nathalie, de Paula, André Mauès, Rigau, Valérie, Vandenbos-Burel, Fanny, Duyckaerts, Charles, Seilhean, Danielle, and Milin, Serge

Published
2021
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115. Human subiculo-fornico-mamillary system in Alzheimer's disease: Tau seeding by the pillar of the fornix.

Author

Thierry, Manon, Boluda, Susana, Delatour, Benoît, Marty, Serge, Seilhean, Danielle, Brainbank Neuro-CEB Neuropathology Network, Letournel, Franck, Martin-Négrier, Marie-Laure, Chapon, Françoise, Godfraind, Catherine, Maurage, Claude-Alain, Deramecourt, Vincent, Meyronnet, David, Streichenberger, Nathalie, de Paula, André Maues, Rigau, Valérie, Vandenbos-Burel, Fanny, Duyckaerts, Charles, Plu, Isabelle, and Milin, Serge

Subjects
NEUROFIBRILLARY tangles, ALZHEIMER'S disease, ELECTRON microscopy, AXONS
Abstract

In Alzheimer's disease (AD), Tau and Aβ aggregates involve sequentially connected regions, sometimes distantly separated. These alterations were studied in the pillar of the fornix (PoF), an axonal tract, to analyse the role of axons in their propagation. The PoF axons mainly originate from the subicular neurons and project to the mamillary body. Forty-seven post-mortem cases at various Braak stages (Tau) and Thal phases (Aβ) were analysed by immunohistochemistry. The distribution of the lesions showed that the subiculum was affected before the mamillary body, but neither Tau aggregation nor Aβ deposition was consistently first. The subiculum and the mamillary body contained Gallyas positive neurofibrillary tangles, immunolabelled by AT8, TG3, PHF1, Alz50 and C3 Tau antibodies. In the PoF, only thin and fragmented threads were observed, exclusively in the cases with neurofibrillary tangles in the subiculum. The threads were made of Gallyas negative, AT8 and TG3 positive Tau. They were intra-axonal and devoid of paired helical filaments at electron microscopy. We tested PoF homogenates containing Tau AT8 positive axons in a Tau P301S biosensor HEK cell line and found a seeding activity. There was no Aβ immunoreactivity detected in the PoF. We could follow microcryodissected AT8 positive axons entering the mamillary body; contacts between Tau positive endings and Aβ positive diffuse or focal deposits were observed in CLARITY-cleared mamillary body. In conclusion, we show that non-fibrillary, hyperphosphorylated Tau is transported by the axons of the PoF from the subiculum to the mamillary body and has a seeding activity. Either Tau aggregation or Aβ accumulation may occur first in this system: this inconstant order is incompatible with a cause-and-effects relationship. However, both pathologies were correlated and intimately associated, indicating an interaction of the two processes, once initiated. [ABSTRACT FROM AUTHOR]

Published
2020
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116. Association of patterns of care, prognostic factors, and use of radiotherapy–temozolomide therapy with survival in patients with newly diagnosed glioblastoma: a French national population-based study

Author

Fabbro-Peray, Pascale, primary, Zouaoui, Sonia, additional, Darlix, Amélie, additional, Fabbro, Michel, additional, Pallud, Johan, additional, Rigau, Valérie, additional, Mathieu-Daude, Hélène, additional, Bessaoud, Faiza, additional, Bauchet, Fabienne, additional, Riondel, Adeline, additional, Sorbets, Elodie, additional, Charissoux, Marie, additional, Amelot, Aymeric, additional, Mandonnet, Emmanuel, additional, Figarella-Branger, Dominique, additional, Duffau, Hugues, additional, Tretarre, Brigitte, additional, Taillandier, Luc, additional, and Bauchet, Luc, additional

Published
2018
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117. ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors

Author

Uro-Coste, Emmanuelle, primary, Masliah-Planchon, Julien, additional, Siegfried, Aurore, additional, Blanluet, Maud, additional, Lambo, Sander, additional, Kool, Marcel, additional, Roujeau, Thomas, additional, Boetto, Sergio, additional, Palenzuela, Gilles, additional, Bertozzi, Anne-Isabelle, additional, Gambart, Marion, additional, Coupier, Isabelle, additional, Oliver-Petit, Isabelle, additional, Golmard, Lisa, additional, Julia, Sophie, additional, Savagner, Fréderique, additional, Mohand-Oumoussa, Badreddine, additional, Tauziede-Espariat, Arnault, additional, Delisle, Marie-Bernadette, additional, Figarella-Branger, Dominique, additional, Bourdeaut, Franck, additional, and Rigau, Valérie, additional

Published
2018
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118. 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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120. Mitotic index, microvascular proliferation, and necrosis define 3 pathological subgroups of prognostic relevance among 1p/19q co-deleted anaplastic oligodendrogliomas

Author

Figarella-Branger, Dominique, Mokhtari, Karima, Dehais, Caroline, Carpentier, Catherine, Colin, Carole, Jouvet, Anne, Uro-Coste, Emmanuelle, Forest, Fabien, Maurage, Claude-Alain, Vignaud, Jean-Michel, Polivka, Marc, Lechapt-Zalcman, Emmanuèle, Eimer, Sandrine, Viennet, Gabriel, Quintin-Roué, Isabelle, Aubriot-Lorton, Marie-Hélène, Diebold, Marie-Danièle, Loussouarn, Delphine, Lacroix, Catherine, Rigau, Valérie, Laquerrière, Annie, Vandenbos, Fanny, Michalak, Sophie, Sevestre, Henri, Peoc'H, Michel, Labrousse, François, Christov, Christo, Kemeny, Jean-Louis, Chenard, Marie-Pierre, Chiforeanu, Danchristian, Ducray, François, Idbaih, Ahmed, Delattre, Jean-Yves, Network, POLA, Service d’Anatomie Pathologique et de Neuropathologie, APHM, Hôpital de la Timone, Hôpital de la Timone [CHU - APHM] (TIMONE), 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), Laboratoire de Neuropathologie Raymond Escourolle, Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], 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)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [APHP], Service de neurologie 2 [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Centre de Pathologie et de Neuropathologie Est, Hospices Civils de Lyon (HCL), Service d'anatomie pathologique et histologie-cytologie [Rangueil], Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital de Rangueil, CHU Toulouse [Toulouse], Centre de Recherches en Cancérologie de Toulouse (CRCT), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service d'Anatomie et de Cytologie Pathologique, CHU Saint-Etienne-Hôpital Bellevue, Service d'Anatomie Pathologique, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service d’Anatomie Pathologique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Hôpital Côte de Nacre [CHU Caen], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Imagerie et Stratégies Thérapeutiques des pathologies Cérébrales et Tumorales (ISTCT), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), CHU de Bordeaux Pellegrin [Bordeaux], Histologie et Pathologie Moléculaire des Tumeurs, Université Bordeaux Segalen - Bordeaux 2-EA 2406, Hôpital Jean Minjoz, Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon), Hôpital de la Cavale Blanche - CHRU Brest (CHU - BREST ), Service d'anatomie et de cytologie pathologiques, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Hôpital Robert Debré, Hôpital Guillaume-et-René-Laennec [Saint-Herblain], AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Laboratoire d'anatomie cytologie pathologiques, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier], Service d'Anatomie et Cytologie Pathologique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Centre Hospitalier Universitaire de Nice (CHU Nice), Département de pathologie cellulaire et tissulaire, CHU d'Angers, 4, rue Larrey, 49100 Angers, France., Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Service d'anatomie et cytopathologie, CHU Amiens-Picardie, Service d'Anatomie Pathologique [CHU Limoges], CHU Limoges, CHU Henri Mondor, CHU Clermont-Ferrand, Service d'Anatomie Pathologique Générale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Service d'anatomie et cytologie pathologiques [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], 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) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Normandie Université (NU)-Normandie Université (NU)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Service d'Anatomie et Cytologie Pathologique [CHU Rouen], Service d'anatomie et cytologie pathologiques [Rennes] = Anatomy and Cytopathology [Rennes], CHU Pontchaillou [Rennes], 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-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Neuropathologie Raymond Escourolle [CHU Pitié-Salpétriêre], Université Pierre et Marie Curie - Paris 6 (UPMC)-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), 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), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Henri Mondor [Créteil], Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Aix Marseille Université (AMU), Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université, 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], and Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

Subjects
microvascular proliferation, Male, Cancer Research, Pathology, medicine.medical_specialty, Mitotic index, Necrosis, [SDV]Life Sciences [q-bio], Oligodendroglioma, Anaplastic oligodendroglioma, 1p/19q co-deletion, 03 medical and health sciences, 0302 clinical medicine, medicine, Mitotic Index, Humans, mitoses, Survival rate, Mitosis, Pathological, Letter to the Editor, Neovascularization, Pathologic, business.industry, Brain Neoplasms, Middle Aged, medicine.disease, Prognosis, Isocitrate Dehydrogenase, 3. Good health, Survival Rate, Isocitrate dehydrogenase, Oncology, Chromosomes, Human, Pair 1, 030220 oncology & carcinogenesis, Female, Neurology (clinical), anaplastic oligodendrogliomas, medicine.symptom, Chromosome Deletion, business, Chromosomes, Human, Pair 19, 030217 neurology & neurosurgery
Abstract

CERVOXY COLL; International audience

Published
2016
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121. Primary melanoma of the leptomeninges with bap1 expression-loss in the setting of a nevus of ota: A clinical, morphological and genetic study of 2 cases

Author

Goldman-Levy, Gabrielle, Rigau, Valérie, Blechet, C., Bens, G., Muckensturm, B., Delage, M., Labrousse, F., Haddad, V., Attignon, Valéry, Daniel PISSALOUX, Fouchardiere, A., Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Léon Bérard [Lyon], Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), 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
[SDV.CAN]Life Sciences [q-bio]/Cancer, France, Dermatology, Letters to the Editor, Melanoma, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2016
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122. Combining cadherin expression with molecular markers discriminates invasiveness in GH and PRL pituitary adenomas

Author

Chauvet, Norbert, Romano, Nicola, Meunier, Anne-Cécile, Galibert, Evelyne, Fontanaud, Pierre, Mathieu, Marie-Noelle, Osterstock, Guillaume, Osterstock, Philippe, Baccino, Eric, Rigau, Valérie, Loiseau, Hugues, Bouillot-Eimer, Sandrine, Barlier, Anne, Mollard, Patrice, and Coutry, Nathalie

Subjects
Epithelial Mesenchymal Transition, ESRP, Human pituitary tumors, Binary tree analysis, Cadherins
Abstract

Although GH- and PRL-secreting pituitary adenomas are considered benign, in many patients, tumor growth and/or invasion constitute a particular challenge. In other tumors, progression relies in part on dysfunction of intercellular adhesion mediated by the large family of cadherins. In this study, we have explored the contribution of cadherins in GH and PRL adenoma pathogenesis, and evaluated whether this class of adherence molecules was related to tumor invasiveness. We have first established, by qPCR and immunohistochemistry, the expression profile of classical cadherins in normal human pituitary gland. We show that the cadherin repertoire is restricted and cell-type specific. Somatotrophs and lactotrophs express mainly E-cadherin and cadherin 18, while N-cadherin is present in the other endocrine cell types. This repertoire undergoes major differential modification in GH and PRL tumors: E-cadherin is significantly reduced in invasive GH adenomas, and this loss is associated with a cytoplasmic relocalization of cadherin 18 and catenins. In invasive prolactinomas, E-cadherin distribution is altered and is accompanied by a mislocalization of cadherin 18, beta-catenin and p120 catenin. Strikingly, de novo expression of N-cadherin is present in a subset of adenomas and cells exhibit a mesenchymal phenotype exclusively in invasive tumors. Binary tree analysis, performed by combining the cadherin repertoire with the expression of a subset of known molecular markers, shows that cadherin/catenin complexes play a significant role in discrimination of tumor invasion.

Published
2016
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123. Time dependent vascular pericyte changes in a genetic model of Alzheimer’s disease

Author

Giannoni, Patrizia, Arango-Lievano, Margarita, Das Neves, Ines, Rousset, Marie-Claude, Baranger, Kévin, Rigau, Valérie, Rivera, Santiago, Claeysen, Sylvie, Marchi, Nicola, Institut de Génomique Fonctionnelle (IGF), Université de Montpellier (UM)-Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Montpellier 2 - Sciences et Techniques (UM2)-Centre National de la Recherche Scientifique (CNRS), Institut de neurophysiopathologie (INP), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), and Institut des Neurosciences de Montpellier (INM)

Subjects
[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SCCO.NEUR]Cognitive science/Neuroscience, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2015

124. Longitudinal cerebrovascular changes in a genetic model of Alzheimer’s disease

Author

Giannoni, Patrizia, Belkacemi, Yacine, Rousset, Marie-Claude, Boussadia, Baddreddine, Gaven, Florence, Baranger, Kévin, Rigau, Valérie, Rivera, Santiago, Claeysen, Sylvie, Marchi, Nicola, Institut de Génomique Fonctionnelle (IGF), Université de Montpellier (UM)-Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Montpellier 2 - Sciences et Techniques (UM2)-Centre National de la Recherche Scientifique (CNRS), Institut of Functional Genomic, Partenaires INRAE, Institut de neurophysiopathologie (INP), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), and Institut des Neurosciences de Montpellier (INM)

Subjects
[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SCCO.NEUR]Cognitive science/Neuroscience, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2015

125. Increased prevalence of granulovacuolar degeneration in C9orf72 mutation.

Author

Riku, Yuichi, Duyckaerts, Charles, Boluda, Susana, Plu, Isabelle, Le Ber, Isabelle, Millecamps, Stéphanie, Salachas, François, Brainbank NeuroCEB Neuropathology Network, Letournel, Franck, Martin-Négrier, Marie-Laure, Chapon, Françoise, Godfraind, Catherine, Maurage, Claude-Alain, Deramecourt, Vincent, Meyronet, David, Streichenberger, Nathalie, Maues de Paula, André, Rigau, Valérie, Vandenbos-Burel, Fanny, and Milin, Serge

Subjects
AMYOTROPHIC lateral sclerosis, NEUROFIBRILLARY tangles, FRONTOTEMPORAL lobar degeneration, CASEIN kinase, FISHER exact test, ALZHEIMER'S disease, DEGENERATION (Pathology)
Abstract

Granulovacuolar degeneration (GVD) is usually found in Alzheimer's disease (AD) cases or in elderly individuals. Its severity correlates positively with the density of neurofibrillary tangles (NFTs). Mechanisms underlying GVD formation are unknown. We assessed the prevalence and distribution of GVD in cases with TDP-43-related frontotemporal lobar degeneration (FTLD-TDP) and amyotrophic lateral sclerosis (ALS-TDP). Consecutively autopsied cases with FTLD/ALS-TDP and C9orf72 mutations (FTLD/ALS-C9; N = 29), cases with FTLD/ALS-TDP without C9orf72 mutations (FTLD/ALS-nonC9; N = 46), and age-matched healthy controls (N = 40) were studied. The prevalence of GVD was significantly higher in the FTLD/ALS-C9 cases (26/29 cases) than in the FTLD/ALS-nonC9 cases (15/46 cases; Fisher exact test; p < 2×10−6) or in the control group (12/40 individuals; p < 1×10−6). Average Braak stages and ages of death were not significantly different among the groups. The CA2 sector was most frequently affected in the FTLD/ALS-C9 group, whereas the CA1/subiculum was the most vulnerable area in the other groups. Extension of GVD correlated with the clinical duration of the disease in the FTLD/ALS-C9 cases but not in the FTLD/ALS-nonC9 cases. The GVD-containing neurons frequently had dipeptide repeat (DPR) protein inclusions. GVD granules labeled with antibodies directed against charged multivesicular body protein 2B or casein kinase 1δ were attached to DPR inclusions within GVD. Our results suggest that development of GVD and DPR inclusions is related to common pathogenic mechanisms and that GVD is not only associated with NFTs seen in AD cases or aging individuals. [ABSTRACT FROM AUTHOR]

Published
2019
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126. BRAF Mutation Correlates With High-Risk Langerhans Cell Histiocytosis and Increased Resistance to First-Line Therapy.

Author

Héritier, Sébastien, Emile, Jean-François, Barkaoui, Mohamed-Aziz, Thomas, Caroline, Fraitag, Sylvie, Boudjemaa, Sabah, Renaud, Florence, Moreau, Anne, Peuchmaur, Michel, Chassagne-Clement, Catherine, Dijoud, Frédérique, Rigau, Valérie, Moshous, Despina, Lambilliotte, Anne, Mazingue, Françoise, Kebaili, Kamila, Miron, Jean, Jeziorski, Eric, Plat, Geneviève, Aladjidi, Nathalie, Ferster, Alina, Pacquement, Hélène, Galambrun, Claire, Brugières, Laurence, Leverger, Guy, Mansuy, Ludovic, Paillard, Catherine, Deville, Anne, Armari-Alla, Corinne, Lutun, Anne, Gillibert-Yvert, Marion, Stephan, Jean Louis, Cohen-Aubart, Fleur, Haroche, Julien, Pellier, Isabelle, Millot, Frédéric, Lescoeur, Brigitte, Gandemer, Virginie, Bodemer, Christine, Lacave, Roger, Hélias-Rodzewicz, Zofia, Taly, Valérie, Geissmann, Frédéric, Donadieu, Jean, Héritier, Sébastien, Emile, Jean-François, Barkaoui, Mohamed-Aziz, Thomas, Caroline, Fraitag, Sylvie, Boudjemaa, Sabah, Renaud, Florence, Moreau, Anne, Peuchmaur, Michel, Chassagne-Clement, Catherine, Dijoud, Frédérique, Rigau, Valérie, Moshous, Despina, Lambilliotte, Anne, Mazingue, Françoise, Kebaili, Kamila, Miron, Jean, Jeziorski, Eric, Plat, Geneviève, Aladjidi, Nathalie, Ferster, Alina, Pacquement, Hélène, Galambrun, Claire, Brugières, Laurence, Leverger, Guy, Mansuy, Ludovic, Paillard, Catherine, Deville, Anne, Armari-Alla, Corinne, Lutun, Anne, Gillibert-Yvert, Marion, Stephan, Jean Louis, Cohen-Aubart, Fleur, Haroche, Julien, Pellier, Isabelle, Millot, Frédéric, Lescoeur, Brigitte, Gandemer, Virginie, Bodemer, Christine, Lacave, Roger, Hélias-Rodzewicz, Zofia, Taly, Valérie, Geissmann, Frédéric, and Donadieu, Jean

Abstract

Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia with a broad spectrum of clinical manifestations and outcomes in children. The somatic BRAF(V600E) mutation occurs frequently, but clinical significance remains to be determined., info:eu-repo/semantics/published

Published
2016

127. PD1 and PDL1 expression in primary central nervous system diffuse large B‐cell lymphoma are frequent and expression of PD1 predicts poor survival

Author

Four, Marion, primary, Cacheux, Valère, additional, Tempier, Ariane, additional, Platero, Dolorès, additional, Fabbro, Michel, additional, Marin, Grégory, additional, Leventoux, Nicolas, additional, Rigau, Valérie, additional, Costes‐Martineau, Valérie, additional, and Szablewski, Vanessa, additional

Published
2016
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129. Epidemiology for primary brain tumors: a nationwide population-based study

Author

Darlix, Amélie, primary, Zouaoui, Sonia, additional, Rigau, Valérie, additional, Bessaoud, Faiza, additional, Figarella-Branger, Dominique, additional, Mathieu-Daudé, Hélène, additional, Trétarre, Brigitte, additional, Bauchet, Fabienne, additional, Duffau, Hugues, additional, Taillandier, Luc, additional, and Bauchet, Luc, additional

Published
2016
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130. BRAF Mutation Correlates With High-Risk Langerhans Cell Histiocytosis and Increased Resistance to First-Line Therapy

Author

Héritier, Sébastien, primary, Emile, Jean-François, additional, Barkaoui, Mohamed-Aziz, additional, Thomas, Caroline, additional, Fraitag, Sylvie, additional, Boudjemaa, Sabah, additional, Renaud, Florence, additional, Moreau, Anne, additional, Peuchmaur, Michel, additional, Chassagne-Clément, Catherine, additional, Dijoud, Frédérique, additional, Rigau, Valérie, additional, Moshous, Despina, additional, Lambilliotte, Anne, additional, Mazingue, Françoise, additional, Kebaili, Kamila, additional, Miron, Jean, additional, Jeziorski, Eric, additional, Plat, Geneviève, additional, Aladjidi, Nathalie, additional, Ferster, Alina, additional, Pacquement, Hélène, additional, Galambrun, Claire, additional, Brugières, Laurence, additional, Leverger, Guy, additional, Mansuy, Ludovic, additional, Paillard, Catherine, additional, Deville, Anne, additional, Armari-Alla, Corinne, additional, Lutun, Anne, additional, Gillibert-Yvert, Marion, additional, Stephan, Jean-Louis, additional, Cohen-Aubart, Fleur, additional, Haroche, Julien, additional, Pellier, Isabelle, additional, Millot, Frédéric, additional, Lescoeur, Brigitte, additional, Gandemer, Virginie, additional, Bodemer, Christine, additional, Lacave, Roger, additional, Hélias-Rodzewicz, Zofia, additional, Taly, Valérie, additional, Geissmann, Frédéric, additional, and Donadieu, Jean, additional

Published
2016
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132. High CD3+ Cells in Intracranial Thrombi Represent a Biomarker of Atherothrombotic Stroke

Author

Dargazanli, Cyril, primary, Rigau, Valérie, additional, Eker, Omer, additional, Riquelme Bareiro, Carlos, additional, Machi, Paolo, additional, Gascou, Grégory, additional, Arquizan, Caroline, additional, Ayrignac, Xavier, additional, Mourand, Isabelle, additional, Corlobé, Astrid, additional, Lobotesis, Kyriakos, additional, Molinari, Nicolas, additional, Costes, Valérie, additional, Bonafé, Alain, additional, and Costalat, Vincent, additional

Published
2016
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133. Asymmetric Distribution of GFAP in Glioma Multipotent Cells

Author

Guichet, Pierre-Olivier, primary, Guelfi, Sophie, additional, Ripoll, Chantal, additional, Teigell, Marisa, additional, Sabourin, Jean-Charles, additional, Bauchet, Luc, additional, Rigau, Valérie, additional, Rothhut, Bernard, additional, and Hugnot, Jean-Philippe, additional

Published
2016
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134. EWSR1‐PATZ1 gene fusion may define a new glioneuronal tumor entity.

Author

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

Subjects
GENE fusion, CENTRAL nervous system tumors, RNA sequencing, ONCOGENES, TRANSCRIPTION factors
Abstract

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. [ABSTRACT FROM AUTHOR]

Published
2019
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135. Recensement national histologique des tumeurs primitives du système nerveux central : résultats généraux sur 40 000 cas, principales applications actuelles et perspectives. [French brain tumor database: general results on 40,000 cases, main current applications and future prospects]

Author

Zouaoui, S., Rigau, Valérie, Mathieu-Daudé, Hélène, Darlix, A., Bessaoud, F., Fabbro-Peray, P., Bauchet, F., Kerr, C., Fabbro, M., Figarella-Branger, D., Taillandier, L., Duffau, H., Trétarre, B., Bauchet, L., Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Service d'épidémiologie, Groupe de neuro-oncologie du Languedoc Roussillon, Service de biostatistiques, Institut Universitaire de Recherche Clinique, Service d'anatomie pathologique et de neurophatologie, Assistance Publique - Hôpitaux de Marseille (APHM)-CHU Marseille, 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), la Ligue nationale contre le cancer, l'Institut national du cancer, l'Associations pour la Recherche sur les tumeurs cérébrales (ARTC et ARTC Sud), les laboratoires Schering-Plough, Roche, Archimedes Pharma, Sophysa, l'ANOCE, la SFNC, le Rotary Club (AGLY), le département de l'Hérault, le groupe de neuro-oncologie du Languedoc Roussillon., Société française de neurochirurgie (SFNC) et le Club de neuro-oncologie de la SFNC, Société française de neuropathologie (SFNP), Association des neuro-oncologues d'expression française (ANOCEF), and Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM)

Subjects
MESH: Forecasting, MESH: Epidemiologic Studies, MESH: Humans, Neurochirurgie, MESH: Sex Distribution, [SDV.CAN]Life Sciences [q-bio]/Cancer, Neuropathologie, MESH: Databases, Factual, MESH: Central Nervous System Neoplasms, MESH: France, Neuro-épidémiologie, Base de données, [SDV.IB]Life Sciences [q-bio]/Bioengineering, Neuro-oncologie, MESH: Age Distribution, Tumeur cérébrale
Abstract

International audience; BACKGROUND AND PURPOSE: This work aimed at prospectively record all primary central nervous system tumor (PCNST) cases in France, for which histological diagnosis was available. The objectives were to (i) create a national database and network to perform epidemiological studies, (ii) implement clinical and basic research protocols, and (iii) harmonize the health care of patients affected by PCNST. METHODS: The methodology is based on a multidisciplinary national network already established by the French Brain Tumor DataBase (FBTDB) (Recensement national histologique des tumeurs primitives du système nerveux central [RnhTPSNC]), and the active participation of the Scientific Societies involved in neuro-oncology in France. RESULTS: From 2004 to 2009, 43,929 cases of newly diagnosed and histologically confirmed PCNST have been recorded. Histological diagnoses included gliomas (42,4%), all other neuroepithelial tumors (4,4%), tumors of the meninges (32,3%), nerve sheath tumors (9,2%), lymphomas (3,4%) and others (8,3%). Cryopreservation was reported for 9603 PCNST specimens. Tumor resections were performed in 78% cases, while biopsies accounted for 22%. Median age at diagnosis, sex, percentage of resections and number of cryopreserved tumors were detailed for each histology, according to the WHO classification. DISCUSSION/CONCLUSION: Many current applications and perspectives for the FBTDB are illustrated in the discussion. To our knowledge, this work is the first database in Europe, dedicated to PCNST, including clinical, surgical and histological data (with also cryopreservation of the specimens), and which may have major epidemiological, clinical and research implications.

Published
2012
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136. Epidemiological analysis of adult-type diffuse lower-grade gliomas and incidence and prevalence estimates of diffuse IDH-mutant gliomas in France

Author

Bauchet, Luc, Rigau, Valérie, Mathon, Bertrand, and Darlix, Amélie

Abstract

•The main factors that impact glioma overall and diffuse lower-grade glioma incidences are reviewed.•Estimate of the 2024 French glioma incidence is 6.6/100,000 person-years.•For the first time we provided incidence and prevalence estimates of diffuse IDH-mutant glioma in France.•French incidence estimates of diffuse IDH-mutant gliomas are 1, 0.5, 0.3, 0.2, for all grade, grade 2, grade 3, grade 4 /100,000 person-years, respectively.•Grade 2 IDH-mutant glioma prevalence would be greater than 6.57/100,000 persons.

Published
2024
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137. A Probabilistic Atlas of Diffuse WHO Grade II Glioma Locations in the Brain

Author

Parisot, Sarah, primary, Darlix, Amélie, additional, Baumann, Cédric, additional, Zouaoui, Sonia, additional, Yordanova, Yordanka, additional, Blonski, Marie, additional, Rigau, Valérie, additional, Chemouny, Stéphane, additional, Taillandier, Luc, additional, Bauchet, Luc, additional, Duffau, Hugues, additional, and Paragios, Nikos, additional

Published
2016
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140. Syndrome CLIPPERS

Author

Taieb, Guillaume, primary, Allou, Thibault, additional, Pantesco, Véronique, additional, Vincent, Thierry, additional, Rigau, Valérie, additional, and Labauge, Pierre, additional

Published
2015
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142. Next generation sequencing of a large panel of genes is efficient for diagnosis of children with myopathies and muscular dystrophies, especially for early and / or atypical cases

Author

Yauy, Kevin, Walther-Louvier, Ulrike, Juntas-Morales, Raul, Cances, Claude, Espil, Caroline, Sole, Guilhem, Arne-Bes, Marie-Christine, Cintas, Pascal, Renard, Dimitri, Lacourt, Delphine, Leboucq, Nicolas, Uro-Coste, Emmanuelle, Martin Negrier, Marie-Laure, Rigau, Valerie, Bieth, Eric, Goizet, Cyril, Coubes, Christine, Koenig, Michel, Rivier, Francois, and Cossee, Mireille

Published
2017
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143. Natural course and prognosis of anaplastic gangliogliomas: a multicenter retrospective study of 43 cases from the French Brain Tumor Database.

Author

Terrier, Louis-Marie, Bauchet, Luc, Rigau, Valérie, Amelot, Aymeric, Zouaoui, Sonia, Filipiak, Isabelle, Caille, Agnès, Almairac, Fabien, Aubriot-Lorton, Marie-Hélène, Bergemer-Fouquet, Anne-Marie, Bord, Eric, Cornu, Philippe, Czorny, Alain, Phong Dam Hieu, Debono, Bertrand, Delisle, Marie-Bernadette, Emery, Evelyne, Farah, Walid, Gauchotte, Guillaume, and Godfraind, Catherine

Published
2017
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146. A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes

Author

Zenagui, Reda, Lacourt, Delphine, Pegeot, Henri, Yauy, Kevin, Juntas Morales, Raul, Theze, Corine, Rivier, François, Cances, Claude, Sole, Guilhem, Renard, Dimitri, Walther-Louvier, Ulrike, Ferrer-Monasterio, Xavier, Espil, Caroline, Arné-Bes, Marie-Christine, Cintas, Pascal, Uro-Coste, Emmanuelle, Martin Negrier, Marie-Laure, Rigau, Valérie, Bieth, Eric, Goizet, Cyril, Claustres, Mireille, Koenig, Michel, and Cossée, Mireille

Abstract

Myopathies and muscular dystrophies (M-MDs) are genetically heterogeneous diseases, with >100 identified genes, including the giant and complex titin (TTN) and nebulin (NEB) genes. Next-generation sequencing technology revolutionized M-MD diagnosis and revealed high frequency of TTNand NEBvariants. We developed a next-generation sequencing diagnostic strategy targeted to the coding sequences of 135 M-MD genes. Comparison of two targeted capture technologies (SeqCap EZ Choice library capture kit and Nextera Rapid Capture Custom Enrichment kit) and of two whole-exome sequencing kits (SureSelect V5 and TruSeq RapidExome capture) revealed best coverage with the SeqCap EZ Choice protocol. A marked decrease in coverage was observed with the other kits, affecting mostly the first exons of genes and the repeated regions of TTNand NEB. Bioinformatics analysis strategy was fine-tuned to achieve optimal detection of variants, including small insertions/deletions (INDELs) and copy number variants (CNVs). Analysis of a cohort of 128 patients allowed the detection of 52 substitutions, 13 INDELs (including a trinucleotide repeat expansion), and 3 CNVs. Two INDELs were localized in the repeated regions of NEB, suggesting that these mutations may be frequent but underestimated. A large deletion was also identified in TTNthat is, to our knowledge, the first published CNV in this gene.

Published
2018
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147. Isolation of mineralizing Nestin+ Nkx6.1+ vascular muscular cells from the adult human spinal cord

Author

Neurociencias, Neurozientziak, Mamaeva, Daria, Ripoll, Chantal, Bony, Claire, Teigell, Marisa, Perrin, Florence, Rothhut, Bernard, Bieche, Ivan, Lidereau, Rosette, Privat, Alain, Rigau, Valérie, Guillon, Hélène, Vachiery-Lahaye, Florence, Noel, Daniele, Bauchet, Luc, Hugnot, Jean-Philippe, Neurociencias, Neurozientziak, Mamaeva, Daria, Ripoll, Chantal, Bony, Claire, Teigell, Marisa, Perrin, Florence, Rothhut, Bernard, Bieche, Ivan, Lidereau, Rosette, Privat, Alain, Rigau, Valérie, Guillon, Hélène, Vachiery-Lahaye, Florence, Noel, Daniele, Bauchet, Luc, and Hugnot, Jean-Philippe

Abstract

Background: The adult central nervous system (CNS) contains different populations of immature cells that could possibly be used to repair brain and spinal cord lesions. The diversity and the properties of these cells in the human adult CNS remain to be fully explored. We previously isolated Nestin(+) Sox2(+) neural multipotential cells from the adult human spinal cord using the neurosphere method (i.e. non adherent conditions and defined medium). -- Results: Here we report the isolation and long term propagation of another population of Nestin(+) cells from this tissue using adherent culture conditions and serum. QPCR and immunofluorescence indicated that these cells had mesenchymal features as evidenced by the expression of Snai2 and Twist1 and lack of expression of neural markers such as Sox2, Olig2 or GFAP. Indeed, these cells expressed markers typical of smooth muscle vascular cells such as Calponin, Caldesmone and Acta2 (Smooth muscle actin). These cells could not differentiate into chondrocytes, adipocytes, neuronal and glial cells, however they readily mineralized when placed in osteogenic conditions. Further characterization allowed us to identify the Nkx6.1 transcription factor as a marker for these cells. Nkx6.1 was expressed in vivo by CNS vascular muscular cells located in the parenchyma and the meninges. -- Conclusion: Smooth muscle cells expressing Nestin and Nkx6.1 is the main cell population derived from culturing human spinal cord cells in adherent conditions with serum. Mineralization of these cells in vitro could represent a valuable model for studying calcifications of CNS vessels which are observed in pathological situations or as part of the normal aging. In addition, long term propagation of these cells will allow the study of their interaction with other CNS cells and their implication in scar formation during spinal cord injury.

Published
2011

148. Correction to: Natural history of spinal cord metastasis from brain glioblastomas.

Author

Amelot, Aymeric, Terrier, Louis-Marie, Cognacq, Gabrielle, Jecko, Vincent, Marlier, Benoit, Seizeur, Romuald, Emery, Evelyne, Bauchet, Luc, Roualdes, Vincent, Voirin, Jimmy, Joubert, Christophe, Mandonnet, Emmanuel, Lemnos, Leslie, Mathon, Bertrand, Le Reste, Pierre-Jean, Coca, Andres, Petit, Antoine, Rigau, Valérie, Mokhtari, Karima, and Rousseau, Audrey

Published
2023
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149. Contrast enhancement in 1p/19q-codeleted anaplastic oligodendrogliomas is associated with 9p loss, genomic instability, and angiogenic gene expression

Author

Reyes-Botero, German, primary, Dehais, Caroline, additional, Idbaih, Ahmed, additional, Martin-Duverneuil, Nadine, additional, Lahutte, Marion, additional, Carpentier, Catherine, additional, Letouzé, Eric, additional, Chinot, Olivier, additional, Loiseau, Hugues, additional, Honnorat, Jerome, additional, Ramirez, Carole, additional, Moyal, Elisabeth, additional, Figarella-Branger, Dominique, additional, Ducray, François, additional, Desenclos, Christine, additional, Sevestre, Henri, additional, Menei, Philippe, additional, Michalak, Sophie, additional, Al Nader, Edmond, additional, Godard, Joel, additional, Viennet, Gabriel, additional, Carpentier, Antoine, additional, Eimer, Sandrine, additional, Dam-Hieu, Phong, additional, Quintin-Roué, Isabelle, additional, Guillamo, Jean-Sebastien, additional, Lechapt-Zalcman, Emmanuelle, additional, Kemeny, Jean-Louis, additional, Verrelle, Pierre, additional, Faillot, Thierry, additional, Gaultier, Claude, additional, Tortel, Marie Christine, additional, Christov, Christo, additional, Le Guerinel, Caroline, additional, Aubriot-Lorton, Marie-Hélène, additional, Ghiringhelli, Francois, additional, Berger, François, additional, Lacroix, Catherine, additional, Parker, Fabrice, additional, Dubois, François, additional, Maurage, Claude-Alain, additional, Gueye, Edouard-Marcel, additional, Labrousse, Francois, additional, Jouvet, Anne, additional, Bauchet, Luc, additional, Rigau, Valérie, additional, Beauchesne, Patrick, additional, Vignaud, Jean-Michel, additional, Campone, Mario, additional, Loussouarn, Delphine, additional, Fontaine, Denys, additional, Vandenbos, Fanny, additional, Campello, Chantal, additional, Roger, Pascal, additional, Fesneau, Melanie, additional, Heitzmann, Anne, additional, Delattre, Jean-Yves, additional, Elouadhani, Selma, additional, Mokhtari, Karima, additional, Polivka, Marc, additional, Ricard, Damien, additional, Levillain, Pierre-Marie, additional, Wager, Michel, additional, Colin, Philippe, additional, Diebold, Marie-Danièle, additional, Chiforeanu, Dan, additional, Vauleon, Elodie, additional, Langlois, Olivier, additional, Laquerriere, Annie, additional, Motsuo Fotso, Marie Janette, additional, Peoc'h, Michel, additional, Andraud, Marie, additional, Mouton, Servane, additional, Chenard, Marie-Pierre, additional, Noel, Georges, additional, Desse, Nicolas, additional, Soulard, Raoulin, additional, Amiel-Benouaich, Alexandra, additional, Uro-Coste, Emmanuelle, additional, and Dhermain, Frederic, additional

Published
2013
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