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2. POS1445 INCLUSION BODY MYOSITIS ASSOCIATED WITH SJÖGREN SYNDROME HAS DIFFERENT IMMUNE CELLS INFILTRATE FROM SPORADIC INCLUSION BODY MYOSITIS

Author

Quéré, B., primary, Bourhis, A., additional, Hémon, P., additional, Pers, J. O., additional, Noury, J. B., additional, Marcorelles, P., additional, Guellec, D., additional, Allenbach, Y., additional, Marianpillai, K., additional, Léonard-Louis, S., additional, Sanges, S., additional, Maurage, C. A., additional, Nocturne, G., additional, Adam, C., additional, Meyer, A., additional, Lannes, B., additional, Urbanski, G., additional, Croue, A., additional, Devauchelle-Pensec, V., additional, Uguen, A., additional, and Cornec, D., additional

Published
2023
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11. Electro-clinical presentation of hereditary transthyretin related amyloidosis when presenting as a polyneuropathy of unknown origin in northern France

Author

Davion, J.-B., primary, Bocquillon, P., additional, Cassim, F., additional, Frezel, N., additional, Lacour, A., additional, Dhaenens, C.-M., additional, Maurage, C.-A., additional, Gibier, J.-B., additional, Hachulla, E., additional, Nguyen The Tich, S., additional, Defebvre, L., additional, Merle, P.-E., additional, and Tard, C., additional

Published
2021
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13. PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum

Author

Alhalabi, KT, Stichel, D, Sievers, P, Peterziel, H, Sommerkamp, AC, Sturm, D, Wittmann, A, Sill, M, Jaeger, N, Beck, P, Pajtler, KW, Snuderl, M, Jour, G, Delorenzo, M, Martin, AM, Levy, A, Dalvi, N, Hansford, JR, Gottardo, NG, Uro-Coste, E, Maurage, C-A, Godfraind, C, Vandenbos, F, Pietsch, T, Kramm, C, Filippidou, M, Kattamis, A, Jones, C, Ora, I, Mikkelsen, TS, Zapotocky, M, Sumerauer, D, Scheie, D, McCabe, M, Wesseling, P, Tops, BBJ, Kranendonk, MEG, Karajannis, MA, Bouvier, N, Papaemmanuil, E, Dohmen, H, Acker, T, von Hoff, K, Schmid, S, Miele, E, Filipski, K, Kitanovski, L, Krskova, L, Gojo, J, Haberler, C, Alvaro, F, Ecker, J, Selt, F, Milde, T, Witt, O, Oehme, I, Kool, M, von Deimling, A, Korshunov, A, Pfister, SM, Sahm, F, Jones, DTW, Alhalabi, KT, Stichel, D, Sievers, P, Peterziel, H, Sommerkamp, AC, Sturm, D, Wittmann, A, Sill, M, Jaeger, N, Beck, P, Pajtler, KW, Snuderl, M, Jour, G, Delorenzo, M, Martin, AM, Levy, A, Dalvi, N, Hansford, JR, Gottardo, NG, Uro-Coste, E, Maurage, C-A, Godfraind, C, Vandenbos, F, Pietsch, T, Kramm, C, Filippidou, M, Kattamis, A, Jones, C, Ora, I, Mikkelsen, TS, Zapotocky, M, Sumerauer, D, Scheie, D, McCabe, M, Wesseling, P, Tops, BBJ, Kranendonk, MEG, Karajannis, MA, Bouvier, N, Papaemmanuil, E, Dohmen, H, Acker, T, von Hoff, K, Schmid, S, Miele, E, Filipski, K, Kitanovski, L, Krskova, L, Gojo, J, Haberler, C, Alvaro, F, Ecker, J, Selt, F, Milde, T, Witt, O, Oehme, I, Kool, M, von Deimling, A, Korshunov, A, Pfister, SM, Sahm, F, and Jones, DTW

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

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

Author

Alhalabi, K.T. Stichel, D. Sievers, P. Peterziel, H. Sommerkamp, A.C. Sturm, D. Wittmann, A. Sill, M. Jäger, N. Beck, P. Pajtler, K.W. Snuderl, M. Jour, G. Delorenzo, M. Martin, A.M. Levy, A. Dalvi, N. Hansford, J.R. Gottardo, N.G. Uro-Coste, E. Maurage, C.-A. Godfraind, C. Vandenbos, F. Pietsch, T. Kramm, C. Filippidou, M. Kattamis, A. Jones, C. Øra, I. Mikkelsen, T.S. Zapotocky, M. Sumerauer, D. Scheie, D. McCabe, M. Wesseling, P. Tops, B.B.J. Kranendonk, M.E.G. Karajannis, M.A. Bouvier, N. Papaemmanuil, E. Dohmen, H. Acker, T. von Hoff, K. Schmid, S. Miele, E. Filipski, K. Kitanovski, L. Krskova, L. Gojo, J. Haberler, C. Alvaro, F. Ecker, J. Selt, F. Milde, T. Witt, O. Oehme, I. Kool, M. von Deimling, A. Korshunov, A. Pfister, S.M. Sahm, F. Jones, D.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. © 2021, The Author(s).

Published
2021

17. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease

Author

Chapuis, J, Hot, D, Hansmannel, F, Kerdraon, O, Ferreira, S, Hubans, C, Maurage, C A, Huot, L, Bensemain, F, Laumet, G, Ayral, A M, Fievet, N, Hauw, J J, DeKosky, S T, Lemoine, Y, Iwatsubo, T, Wavrant-Devrièze, F, Dartigues, J F, Tzourio, C, Buée, L, Pasquier, F, Berr, C, Mann, D, Lendon, C, Alpérovitch, A, Kamboh, M I, Amouyel, P, and Lambert, J C

Published
2009
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18. Wernicke encephalopathy and Creutzfeldt-Jakob disease

Author

Bertrand, A., Brandel, J. P., Grignon, Y., Sazdovitch, V., Seilhean, D., Faucheux, B., Privat, N., Brault, J. L., Vital, A., Uro-Coste, E., Pluot, M., Chapon, F., Maurage, C. A., Letournel, F., Vespignani, H., Place, G., Degos, C. F., Peoc’h, K., Haïk, S., and Hauw, J. J.

Published
2009
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24. Relapsing demyelinating disease affecting both the central and peripheral nervous systems

Author

Zephir, H., Stojkovic, T., Latour, P., Lacour, A., Seze, J. de, Outteryck, O., Maurage, C.-A., Monpeurt, C., Chatelet, P., Ovelacq, E., and Vermersch, P.

Subjects
Demyelinating diseases -- Research, Demyelinating diseases -- Physiological aspects, Central nervous system -- Research, Central nervous system -- Physiological aspects, Nerves, Peripheral -- Research, Nerves, Peripheral -- Physiological aspects, Health, Psychology and mental health
Published
2008

29. A specific clinical pattern of camptocormia in Parkinson's disease

Author

Lepoutre, A.-C., Devos, D., Blanchard-Dauphin, A., Pardessus, V., Maurage, C.-A., Ferriby, D., Hurtevent, J.-F., Cotten, A., Destee, A., and Defebvre, L.

Subjects
Parkinson's disease -- Research, Parkinson's disease -- Physiological aspects, Parkinson's disease -- Development and progression, Posture disorders -- Causes of, Posture disorders -- Research, Health, Psychology and mental health
Published
2006

35. A polyphenotypic malignant paediatric brain tumour presenting a MN1‐PATZ1 fusion, no epigenetic similarities with CNS High‐Grade Neuroepithelial Tumour with MN1 Alteration (CNS HGNET‐MN1) and related to PATZ1 ‐fused sarcomas

Author

Burel‐Vandenbos, F., primary, Pierron, G., additional, Thomas, C., additional, Reynaud, S., additional, Gregoire, V., additional, Duhil de Benaze, G., additional, Croze, S., additional, Chivoret, N., additional, Honavar, M., additional, Figarella‐Branger, D., additional, Maurage, C.‐A., additional, Pedeutour, F., additional, Hasselblatt, M., additional, and Godfraind, C., additional

Published
2020
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41. Overexpression of MBNL1 fetal isoforms and modified splicing of Tau in the DM1 brain: Two individual consequences of CUG trinucleotide repeats

Author

Dhaenens, C. M., Schraen-Maschke, S., Tran, H., Vingtdeux, V., Ghanem, D., Leroy, O., Delplanque, J., Vanbrussel, E., Delacourte, A., Vermersch, P., Maurage, C. A., Gruffat, H., Sergeant, A., Mahadevan, M. S., Ishiura, S., Buée, L., Cooper, T. A., Caillet-Boudin, M. L., Charlet-Berguerand, N., Sablonnière, B., and Sergeant, N.

Published
2008
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42. Clinical, Radiological, Histopathological, Molecular Description and Identification of Prognostic Factors for Desmoplastic Infantile Gangliogliomas and Astrocytomas: A Multicentric Cohort Study

Author

Gourmel, A., Perbet, R., Beccaria, K., Maurage, C. A., Escande, F., Grill, J., Varlet, P., Figarella, D., Vinchon, M., Bourdeaut, F., Devoldere, C., Le Moing, Anne Gaelle, Salamon, A. I. Bertozzi, de Carli, E., Gentet, J. C., Icher, C., Frappaz, D., Silva, K., Leblond, P., Service de pathologie [CHU Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Département de cancérologie de l'enfant et de l'adolescent [Gustave Roussy], Institut Gustave Roussy (IGR), Vectorologie et thérapeutiques anti-cancéreuses [Villejuif] (UMR 8203), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Sainte Anne [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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), CHU Amiens-Picardie, Groupe de Recherche sur l'Analyse Multimodale de la Fonction Cérébrale - UMR INSERM_S 1105 (GRAMFC), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Centre Léon Bérard [Lyon], Dynamique des Génomes et Adaptation Microbienne (DynAMic), Institut National de la Recherche Agronomique (INRA)-Université de Lorraine (UL), and DESSAIVRE, Louise

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

International audience

Published
2019

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