3,485 results on '"Deimling, Andreas"'
Search Results
2. Loss over 5% of chromosome 1p is a clinically relevant and applicable cut-off for increased risk of recurrence in meningioma
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Maas, Sybren L. N., Hielscher, Thomas, Sievers, Philipp, Hovestadt, Volker, Suwala, Abigail K., Acker, Till, Weller, Michael, Preusser, Matthias, Herold-Mende, Christel, Wick, Wolfgang, von Deimling, Andreas, Berghaus, Natalie, and Sahm, Felix
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- 2024
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3. Plasma extracellular vesicles in meningioma patients following radiotherapy as liquid biopsy- a prospective explorative biomarker study (ARO 2023-05/AG-NRO-07)
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Deng, Maximilian Y., da Silva, Amanda Salviano, Göller, Pauline Carlotta, König, Laila, Schäfer, Henning, Maire, Cecile, Lentz-Hommertgen, Adriane, Held, Thomas, Regnery, Sebastian, Eichkorn, Tanja, Stritzke, Florian, Bauer, Lukas, Schnell, Daniel, Herfarth, Klaus, von Deimling, Andreas, Krieg, Sandro, Wick, Antje, Wick, Wolfgang, Grosu, Anca, Debus, Jürgen, Sahm, Felix, and Ricklefs, Franz
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- 2024
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4. CNS tumors with PLAGL1-fusion: beyond ZFTA and YAP1 in the genetic spectrum of supratentorial ependymomas
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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
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- 2024
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5. EpiDiP/NanoDiP: a versatile unsupervised machine learning edge computing platform for epigenomic tumour diagnostics
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Hench, Jürgen, Hultschig, Claus, Brugger, Jon, Mariani, Luigi, Guzman, Raphael, Soleman, Jehuda, Leu, Severina, Benton, Miles, Stec, Irenäus Maria, Hench, Ivana Bratic, Hoffmann, Per, Harter, Patrick, Weber, Katharina J, Albers, Anne, Thomas, Christian, Hasselblatt, Martin, Schüller, Ulrich, Restelli, Lisa, Capper, David, Hewer, Ekkehard, Diebold, Joachim, Kolenc, Danijela, Schneider, Ulf C., Rushing, Elisabeth, della Monica, Rosa, Chiariotti, Lorenzo, Sill, Martin, Schrimpf, Daniel, von Deimling, Andreas, Sahm, Felix, Kölsche, Christian, Tolnay, Markus, and Frank, Stephan
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- 2024
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6. Systematic analysis of RNA-binding proteins identifies targetable therapeutic vulnerabilities in osteosarcoma
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Zhou, Yang, Ray, Partho Sarothi, Zhu, Jianguo, Stein, Frank, Rettel, Mandy, Sekaran, Thileepan, Sahadevan, Sudeep, Perez-Perri, Joel I., Roth, Eva K., Myklebost, Ola, Meza-Zepeda, Leonardo A., von Deimling, Andreas, Fu, Chuli, Brosig, Annika N., Boye, Kjetil, Nathrath, Michaela, Blattmann, Claudia, Lehner, Burkhard, Hentze, Matthias W., and Kulozik, Andreas E.
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- 2024
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7. Repeat surgery of recurrent glioma for molecularly informed treatment in the age of precision oncology: A risk–benefit analysis
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Alhalabi, Obada T., Dao Trong, Philip, Kaes, Manuel, Jakobs, Martin, Kessler, Tobias, Oehler, Hannah, König, Laila, Eichkorn, Tanja, Sahm, Felix, Debus, Jürgen, von Deimling, Andreas, Wick, Wolfgang, Wick, Antje, Krieg, Sandro M., Unterberg, Andreas W., and Jungk, Christine
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- 2024
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8. Clinically unfavorable transcriptome subtypes of non-WNT/non-SHH medulloblastomas are associated with a predominance in proliferating and progenitor-like cell subpopulations
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Okonechnikov, Konstantin, Schrimpf, Daniel, Koster, Jan, Sievers, Philipp, Milde, Till, Sahm, Felix, Jones, David T. W., von Deimling, Andreas, Pfister, Stefan M., Kool, Marcel, and Korshunov, Andrey
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- 2024
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9. Transcriptomic and epigenetic dissection of spinal ependymoma (SP-EPN) identifies clinically relevant subtypes enriched for tumors with and without NF2 mutation
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Neyazi, Sina, Yamazawa, Erika, Hack, Karoline, Tanaka, Shota, Nagae, Genta, Kresbach, Catena, Umeda, Takayoshi, Eckhardt, Alicia, Tatsuno, Kenji, Pohl, Lara, Hana, Taijun, Bockmayr, Michael, Kim, Phyo, Dorostkar, Mario M., Takami, Toshihiro, Obrecht, Denise, Takai, Keisuke, Suwala, Abigail K., Komori, Takashi, Godbole, Shweta, Wefers, Annika K., Otani, Ryohei, Neumann, Julia E., Higuchi, Fumi, Schweizer, Leonille, Nakanishi, Yuta, Monoranu, Camelia-Maria, Takami, Hirokazu, Engertsberger, Lara, Yamada, Keisuke, Ruf, Viktoria, Nomura, Masashi, Mohme, Theresa, Mukasa, Akitake, Herms, Jochen, Takayanagi, Shunsaku, Mynarek, Martin, Matsuura, Reiko, Lamszus, Katrin, Ishii, Kazuhiko, Kluwe, Lan, Imai, Hideaki, von Deimling, Andreas, Koike, Tsukasa, Benesch, Martin, Kushihara, Yoshihiro, Snuderl, Matija, Nambu, Shohei, Frank, Stephan, Omura, Takaki, Hagel, Christian, Kugasawa, Kazuha, Mautner, Viktor F., Ichimura, Koichi, Rutkowski, Stefan, Aburatani, Hiroyuki, Saito, Nobuhito, and Schüller, Ulrich
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- 2024
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10. Improved prognostic stratification of patients with isocitrate dehydrogenase-mutant astrocytoma
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Weller, Michael, Felsberg, Jörg, Hentschel, Bettina, Gramatzki, Dorothee, Kubon, Nadezhda, Wolter, Marietta, Reusche, Matthias, Roth, Patrick, Krex, Dietmar, Herrlinger, Ulrich, Westphal, Manfred, Tonn, Joerg C., Regli, Luca, Maurage, Claude-Alain, von Deimling, Andreas, Pietsch, Torsten, Le Rhun, Emilie, and Reifenberger, Guido
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- 2024
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11. Pineal anlage tumor: clinical and diagnostic features, and rationales for treatment
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Obrecht-Sturm, Denise, Pfaff, Elke, Mynarek, Martin, Bison, Brigitte, Rodehüser, Martina, Becker, Martina, Kietz, Silke, Pfister, Stefan M., Jones, David T., Sturm, Dominik, von Deimling, Andreas, Sahm, Felix, Kortmann, Rolf-Dieter, Schwarz, Rudolf, Pietsch, Torsten, Fleischhack, Gudrun, and Rutkowski, Stefan
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- 2024
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12. Generation of patient-derived pediatric pilocytic astrocytoma in-vitro models using SV40 large T: evaluation of a modeling workflow
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Selt, Florian, El Damaty, Ahmed, Schuhmann, Martin U., Sigaud, Romain, Ecker, Jonas, Sievers, Philipp, Kocher, Daniela, Herold-Mende, Christel, Oehme, Ina, von Deimling, Andreas, Pfister, Stefan M., Sahm, Felix, Jones, David T. W., Witt, Olaf, and Milde, Till
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- 2023
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13. Independent prognostic impact of DNA methylation class and chromosome 1p loss in WHO grade 2 and 3 meningioma undergoing adjuvant high-dose radiotherapy: comprehensive molecular analysis of EORTC 22042–26042
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Maas, Sybren L. N., Sievers, Philipp, Weber, Damien C., Weller, Michael, van den Bent, Martin J., Mair, Maximilian J., Kros, Johan M., Carparrotti, Fransesca, von Deimling, Andreas, Salvador, Villà Freixa, Peerdeman, Saskia Marguerite, Casas-Martin, Jose, Gorlia, Thierry, Sahm, Felix, and Preusser, Matthias
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- 2023
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14. Genetical and epigenetical profiling identifies two subgroups of pineal parenchymal tumors of intermediate differentiation (PPTID) with distinct molecular, histological and clinical characteristics
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Rahmanzade, Ramin, Pfaff, Elke, Banan, Rouzbeh, Sievers, Philipp, Suwala, Abigail K., Hinz, Felix, Bogumil, Henri, Cherkezov, Asan, Kaan, Aras Fuat, Schrimpf, Daniel, Friedel, Dennis, Göbel, Kirsten, Keller, Felix, Saenz-Sardà, Xavier, Lossos, Alexander, Sill, Martin, Witt, Olaf, Sakowitz, Oliver W., Korshunov, Andrey, Reuss, David E., Etminan, Nima, Unterberg, Andreas, Ratliff, Miriam, Herold-Mende, Christel, Wick, Wolfgang, Pfister, Stefan M., von Deimling, Andreas, Jones, David T. W., and Sahm, Felix
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- 2023
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15. Isocitrate dehydrogenase (IDH) mutant gliomas: A Society for Neuro-Oncology (SNO) consensus review on diagnosis, management, and future directions
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Miller, Julie J, Castro, L Nicolas Gonzalez, McBrayer, Samuel, Weller, Michael, Cloughesy, Timothy, Portnow, Jana, Andronesi, Ovidiu, Barnholtz-Sloan, Jill S, Baumert, Brigitta G, Berger, Mitchell S, Bi, Wenya Linda, Bindra, Ranjit, Cahill, Daniel P, Chang, Susan M, Costello, Joseph F, Horbinski, Craig, Huang, Raymond Y, Jenkins, Robert B, Ligon, Keith L, Mellinghoff, Ingo K, Nabors, L Burt, Platten, Michael, Reardon, David A, Shi, Diana D, Schiff, David, Wick, Wolfgang, Yan, Hai, von Deimling, Andreas, van den Bent, Martin, Kaelin, William G, and Wen, Patrick Y
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Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Brain Disorders ,Cancer ,Rare Diseases ,Neurosciences ,Brain Cancer ,Good Health and Well Being ,Adult ,Humans ,Isocitrate Dehydrogenase ,Consensus ,Mutation ,Glioma ,Brain Neoplasms ,D-2HG ,glioma ,Isocitrate dehydrogenase ,D-2HG ,Oncology & Carcinogenesis ,Oncology and carcinogenesis - Abstract
Isocitrate dehydrogenase (IDH) mutant gliomas are the most common adult, malignant primary brain tumors diagnosed in patients younger than 50, constituting an important cause of morbidity and mortality. In recent years, there has been significant progress in understanding the molecular pathogenesis and biology of these tumors, sparking multiple efforts to improve their diagnosis and treatment. In this consensus review from the Society for Neuro-Oncology (SNO), the current diagnosis and management of IDH-mutant gliomas will be discussed. In addition, novel therapies, such as targeted molecular therapies and immunotherapies, will be reviewed. Current challenges and future directions for research will be discussed.
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- 2023
16. Amplification of the PLAG-family genes—PLAGL1 and PLAGL2—is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification
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Keck, Michaela-Kristina, Sill, Martin, Wittmann, Andrea, Joshi, Piyush, Stichel, Damian, Beck, Pengbo, Okonechnikow, Konstantin, Sievers, Philipp, Wefers, Annika K, Roncaroli, Federico, Avula, Shivaram, McCabe, Martin G, Hayden, James T, Wesseling, Pieter, Øra, Ingrid, Nistér, Monica, Kranendonk, Mariëtte EG, Tops, Bastiaan BJ, Zapotocky, Michal, Zamecnik, Josef, Vasiljevic, Alexandre, Fenouil, Tanguy, Meyronet, David, von Hoff, Katja, Schüller, Ulrich, Loiseau, Hugues, Figarella-Branger, Dominique, Kramm, Christof M, Sturm, Dominik, Scheie, David, Rauramaa, Tuomas, Pesola, Jouni, Gojo, Johannes, Haberler, Christine, Brandner, Sebastian, Jacques, Tom, Sexton Oates, Alexandra, Saffery, Richard, Koscielniak, Ewa, Baker, Suzanne J, Yip, Stephen, Snuderl, Matija, Ud Din, Nasir, Samuel, David, Schramm, Kathrin, Blattner-Johnson, Mirjam, Selt, Florian, Ecker, Jonas, Milde, Till, von Deimling, Andreas, Korshunov, Andrey, Perry, Arie, Pfister, Stefan M, Sahm, Felix, Solomon, David A, and Jones, David TW
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Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Pediatric ,Genetics ,Rare Diseases ,Pediatric Cancer ,Cancer ,Pediatric Research Initiative ,Neurosciences ,Brain Cancer ,Brain Disorders ,Child ,Child ,Preschool ,Female ,Humans ,Infant ,Male ,Cell Cycle Proteins ,Central Nervous System Neoplasms ,DNA Methylation ,DNA-Binding Proteins ,Neuroectodermal Tumors ,Primitive ,RNA-Binding Proteins ,Transcription Factors ,Tumor Suppressor Proteins ,Wnt Signaling Pathway ,PLAGL1 ,PLAGL2 ,Molecular neuro-oncology ,Pediatric cancer ,Clinical Sciences ,Neurology & Neurosurgery - Abstract
Pediatric central nervous system (CNS) tumors represent the most common cause of cancer-related death in children aged 0-14 years. They differ from their adult counterparts, showing extensive clinical and molecular heterogeneity as well as a challenging histopathological spectrum that often impairs accurate diagnosis. Here, we use DNA methylation-based CNS tumor classification in combination with copy number, RNA-seq, and ChIP-seq analysis to characterize a newly identified CNS tumor type. In addition, we report histology, patient characteristics, and survival data in this tumor type. We describe a biologically distinct pediatric CNS tumor type (n = 31 cases) that is characterized by focal high-level amplification and resultant overexpression of either PLAGL1 or PLAGL2, and an absence of recurrent genetic alterations characteristic of other pediatric CNS tumor types. Both genes act as transcription factors for a regulatory subset of imprinted genes (IGs), components of the Wnt/β-Catenin pathway, and the potential drug targets RET and CYP2W1, which are also specifically overexpressed in this tumor type. A derived PLAGL-specific gene expression signature indicates dysregulation of imprinting control and differentiation/development. These tumors occurred throughout the neuroaxis including the cerebral hemispheres, cerebellum, and brainstem, and were predominantly composed of primitive embryonal-like cells lacking robust expression of markers of glial or neuronal differentiation (e.g., GFAP, OLIG2, and synaptophysin). Tumors with PLAGL1 amplification were typically diagnosed during adolescence (median age 10.5 years), whereas those with PLAGL2 amplification were diagnosed during early childhood (median age 2 years). The 10-year overall survival was 66% for PLAGL1-amplified tumors, 25% for PLAGL2-amplified tumors, 18% for male patients, and 82% for female patients. In summary, we describe a new type of biologically distinct CNS tumor characterized by PLAGL1/2 amplification that occurs predominantly in infants and toddlers (PLAGL2) or adolescents (PLAGL1) which we consider best classified as a CNS embryonal tumor and which is associated with intermediate survival. The cell of origin and optimal treatment strategies remain to be defined.
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- 2023
17. Spindle Cell Lesions with Oncogenic EGFR Kinase Domain Aberrations: Expanding the Spectrum of Protein Kinase–Related Mesenchymal Tumors
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Vallese, Silvia, Barresi, Sabina, Hiemcke-Jiwa, Laura, Patrizi, Sara, Kester, Lennart, Giovannoni, Isabella, Cardoni, Antonello, Pedace, Lucia, Nardini, Claudia, Tancredi, Chantal, Desideri, Martina, von Deimling, Andreas, Mura, Rosa M., Piga, Michela, Errico, Maria E., Stracuzzi, Alessandra, Alaggio, Rita, Miele, Evelina, and Flucke, Uta
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- 2024
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18. A H3K27M-targeted vaccine in adults with diffuse midline glioma
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Grassl, Niklas, Poschke, Isabel, Lindner, Katharina, Bunse, Lukas, Mildenberger, Iris, Boschert, Tamara, Jähne, Kristine, Green, Edward W., Hülsmeyer, Ingrid, Jünger, Simone, Kessler, Tobias, Suwala, Abigail K., Eisele, Philipp, Breckwoldt, Michael O., Vajkoczy, Peter, Grauer, Oliver M., Herrlinger, Ulrich, Tonn, Joerg-Christian, Denk, Monika, Sahm, Felix, Bendszus, Martin, von Deimling, Andreas, Winkler, Frank, Wick, Wolfgang, Platten, Michael, and Sahm, Katharina
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- 2023
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19. Wnt/β-Catenin–Activated Nonpilomatrical Carcinoma of the Skin: A Case Series
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Kervarrec, Thibault, Cheok Lei, Kuan, Sohier, Pierre, Macagno, Nicolas, Jullie, Marie-Laure, Frouin, Eric, Goto, Keisuke, Taniguchi, Kohei, Hamard, Aymeric, Taillandier, Antoine, Tallet, Anne, Bonenfant, Christine, Sahin, Yusuf, Barry, Fatoumata, Taibjee, Saleem, Cokelaere, Kristof, Houben, Roland, Schrama, David, Nardin, Charline, Aubin, Francois, Doucet, Laurent, Pissaloux, Daniel, Tirode, Franck, Fouchardière, Arnaud de la, Balme, Brigitte, Laurent-Roussel, Sara, Becker, Jürgen C., von Deimling, Andreas, Samimi, Mahtab, Cribier, Bernard, Battistella, Maxime, Calonje, Eduardo, and Guyétan, Serge
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- 2024
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20. Intracranial mesenchymal tumors with FET‐CREB fusion are composed of at least two epigenetic subgroups distinct from meningioma and extracranial sarcomas
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Sloan, Emily A, Gupta, Rohit, Koelsche, Christian, Chiang, Jason, Villanueva‐Meyer, Javier E, Alexandrescu, Sanda, Eschbacher, Jennifer M, Wang, Wesley, Mafra, Manuela, Din, Nasir Ud, Carr‐Boyd, Emily, Watson, Michael, Punsoni, Michael, Oviedo, Angelica, Gilani, Ahmed, Kleinschmidt‐DeMasters, Bette K, Coss, Dylan J, Lopes, M Beatriz, Reddy, Alyssa, Mueller, Sabine, Cho, Soo‐Jin, Horvai, Andrew E, Lee, Julieann C, Pekmezci, Melike, Tihan, Tarik, Bollen, Andrew W, Rodriguez, Fausto J, Ellison, David W, Perry, Arie, von Deimling, Andreas, Chang, Susan M, Berger, Mitchel S, and Solomon, David A
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Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Brain Cancer ,Neurosciences ,Pediatric ,Cancer ,Clinical Research ,Brain Disorders ,Human Genome ,Genetics ,Rare Diseases ,Adolescent ,Adult ,Biomarkers ,Tumor ,Brain Neoplasms ,Child ,Child ,Preschool ,Epigenesis ,Genetic ,Epigenomics ,Hemangioma ,Histiocytoma ,Malignant Fibrous ,Humans ,Meningeal Neoplasms ,Meningioma ,Oncogene Proteins ,Fusion ,RNA-Binding Protein EWS ,Soft Tissue Neoplasms ,Young Adult ,angiomatoid fibrous histiocytoma ,ATF1 ,brain tumor ,clear cell sarcoma ,CREB1 ,CREM ,EWSR1 ,intracranial mesenchymal tumor with FET-CREB fusion ,intracranial myxoid mesenchymal tumor ,molecular neuropathology ,sarcoma ,Clinical Sciences ,Neurology & Neurosurgery ,Clinical sciences - Abstract
'Intracranial mesenchymal tumor, FET-CREB fusion-positive' occurs primarily in children and young adults and has previously been termed intracranial angiomatoid fibrous histiocytoma (AFH) or intracranial myxoid mesenchymal tumor (IMMT). Here we performed genome-wide DNA methylation array profiling of 20 primary intracranial mesenchymal tumors with FET-CREB fusion to further study their ontology. These tumors resolved into two distinct epigenetic subgroups that were both divergent from all other analyzed intracranial neoplasms and soft tissue sarcomas, including meningioma, clear cell sarcoma of soft tissue (CCS), and AFH of extracranial soft tissue. The first subgroup (Group A, 16 tumors) clustered nearest to but independent of solitary fibrous tumor and AFH of extracranial soft tissue, whereas the second epigenetic subgroup (Group B, 4 tumors) clustered nearest to but independent of CCS and also lacked expression of melanocytic markers (HMB45, Melan A, or MITF) characteristic of CCS. Group A tumors most often occurred in adolescence or early adulthood, arose throughout the neuroaxis, and contained mostly EWSR1-ATF1 and EWSR1-CREB1 fusions. Group B tumors arose most often in early childhood, were located along the cerebral convexities or spinal cord, and demonstrated an enrichment for tumors with CREM as the fusion partner (either EWSR1-CREM or FUS-CREM). Group A tumors more often demonstrated stellate/spindle cell morphology and hemangioma-like vasculature, whereas Group B tumors more often demonstrated round cell or epithelioid/rhabdoid morphology without hemangioma-like vasculature, although robust comparison of these clinical and histologic features requires future study. Patients with Group B tumors had inferior progression-free survival relative to Group A tumors (median 4.5 vs. 49 months, p = 0.001). Together, these findings confirm that intracranial AFH-like neoplasms and IMMT represent histologic variants of a single tumor type ('intracranial mesenchymal tumor, FET-CREB fusion-positive') that is distinct from meningioma and extracranial sarcomas. Additionally, epigenomic evaluation may provide important prognostic subtyping for this unique tumor entity.
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- 2022
21. Concurrent gliomas in patients with multiple sclerosis
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Sahm, Katharina, Kessler, Tobias, Eisele, Philipp, Ratliff, Miriam, Sperk, Elena, König, Laila, Breckwoldt, Michael O., Seliger, Corinna, Mildenberger, Iris, Schrimpf, Daniel, Herold-Mende, Christel, Zeiner, Pia S., Tabatabai, Ghazaleh, Meuth, Sven G., Capper, David, Bendszus, Martin, von Deimling, Andreas, Wick, Wolfgang, Sahm, Felix, and Platten, Michael
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- 2023
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22. EMP3 sustains oncogenic EGFR/CDK2 signaling by restricting receptor degradation in glioblastoma
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Martija, Antoni Andreu, Krauß, Alexandra, Bächle, Natalie, Doth, Laura, Christians, Arne, Krunic, Damir, Schneider, Martin, Helm, Dominic, Will, Rainer, Hartmann, Christian, Herold-Mende, Christel, von Deimling, Andreas, and Pusch, Stefan
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- 2023
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23. Refinement of diagnostic criteria for pediatric-type diffuse high-grade glioma, IDH- and H3-wildtype, MYCN-subtype including histopathology, TP53, MYCN and ID2 status
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Tauziède-Espariat, Arnault, Uro-Coste, Emmanuelle, Nicaise, Yvan, Sievers, Philipp, von Deimling, Andreas, Sahm, Felix, Aboubakr, Oumaima, Métais, Alice, Chrétien, Fabrice, and Varlet, Pascale
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- 2023
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24. INTERCEPT H3: a multicenter phase I peptide vaccine trial for the treatment of H3-mutated diffuse midline gliomas
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Grassl, Niklas, Sahm, Katharina, Süße, Heike, Poschke, Isabel, Bunse, Lukas, Bunse, Theresa, Boschert, Tamara, Mildenberger, Iris, Rupp, Anne-Kathleen, Ewinger, Max Philipp, Lanz, Lisa-Marie, Denk, Monika, Tabatabai, Ghazaleh, Ronellenfitsch, Michael W., Herrlinger, Ulrich, Glas, Martin, Krex, Dietmar, Vajkoczy, Peter, Wick, Antje, Harting, Inga, Sahm, Felix, von Deimling, Andreas, Bendszus, Martin, Wick, Wolfgang, and Platten, Michael
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- 2023
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25. Diagnostic accuracy of a minimal immunohistochemical panel in at/rt molecular subtyping, correlated to dna-methylation profiling
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Tauziède-Espariat, Arnault, Masliah-Planchon, Julien, Andrianteranagna, Mamy, Sievers, Philipp, Sahm, Felix, von Deimling, Andreas, Hasty, Lauren, Delattre, Olivier, Beccaria, Kévin, Métais, Alice, Chrétien, Fabrice, Varlet, Pascale, and Bourdeaut, Franck
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- 2023
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26. Pediatric-type high-grade neuroepithelial tumors with CIC gene fusion share a common DNA methylation signature
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Sievers, Philipp, Sill, Martin, Schrimpf, Daniel, Abdullaev, Zied, Donson, Andrew M., Lake, Jessica A., Friedel, Dennis, Scheie, David, Tynninen, Olli, Rauramaa, Tuomas, Vepsäläinen, Kaisa L., Samuel, David, Chapman, Rebecca, Grundy, Richard G., Pajtler, Kristian W., Tauziède-Espariat, Arnault, Métais, Alice, Varlet, Pascale, Snuderl, Matija, Jacques, Thomas S., Aldape, Kenneth, Reuss, David E., Korshunov, Andrey, Wick, Wolfgang, Pfister, Stefan M., von Deimling, Andreas, Sahm, Felix, and Jones, David T. W.
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- 2023
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27. Comparison of transcriptome profiles between medulloblastoma primary and recurrent tumors uncovers novel variance effects in relapses
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Okonechnikov, Konstantin, Federico, Aniello, Schrimpf, Daniel, Sievers, Philipp, Sahm, Felix, Koster, Jan, Jones, David T. W., von Deimling, Andreas, Pfister, Stefan M., Kool, Marcel, and Korshunov, Andrey
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- 2023
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28. Genomic characterization of DICER1-associated neoplasms uncovers molecular classes
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Kommoss, Felix K. F., Chong, Anne-Sophie, Chong, Anne-Laure, Pfaff, Elke, Jones, David T. W., Hiemcke-Jiwa, Laura S., Kester, Lennart A., Flucke, Uta, Gessler, Manfred, Schrimpf, Daniel, Sahm, Felix, Clarke, Blaise A., Stewart, Colin J. R., Wang, Yemin, Gilks, C. Blake, Kommoss, Friedrich, Huntsman, David G., Schüller, Ulrich, Koelsche, Christian, Glenn McCluggage, W., von Deimling, Andreas, and Foulkes, William D.
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- 2023
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29. Spatial probabilistic mapping of metabolite ensembles in mass spectrometry imaging
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Abu Sammour, Denis, Cairns, James L., Boskamp, Tobias, Marsching, Christian, Kessler, Tobias, Ramallo Guevara, Carina, Panitz, Verena, Sadik, Ahmed, Cordes, Jonas, Schmidt, Stefan, Mohammed, Shad A., Rittel, Miriam F., Friedrich, Mirco, Platten, Michael, Wolf, Ivo, von Deimling, Andreas, Opitz, Christiane A., Wick, Wolfgang, and Hopf, Carsten
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- 2023
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30. Oligosarcomas, IDH-mutant are distinct and aggressive
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Suwala, Abigail K, Felix, Marius, Friedel, Dennis, Stichel, Damian, Schrimpf, Daniel, Hinz, Felix, Hewer, Ekkehard, Schweizer, Leonille, Dohmen, Hildegard, Pohl, Ute, Staszewski, Ori, Korshunov, Andrey, Stein, Marco, Wongsurawat, Thidathip, Cheunsuacchon, Pornsuk, Sathornsumetee, Sith, Koelsche, Christian, Turner, Clinton, Le Rhun, Emilie, Mühlebner, Angelika, Schucht, Philippe, Özduman, Koray, Ono, Takahiro, Shimizu, Hiroaki, Prinz, Marco, Acker, Till, Herold-Mende, Christel, Kessler, Tobias, Wick, Wolfgang, Capper, David, Wesseling, Pieter, Sahm, Felix, von Deimling, Andreas, Hartmann, Christian, and Reuss, David E
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Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Rare Diseases ,Brain Cancer ,Cancer ,Brain Disorders ,Clinical Research ,Pediatric Research Initiative ,Genetics ,2.1 Biological and endogenous factors ,Aetiology ,Adult ,Aged ,Brain Neoplasms ,Female ,Humans ,Isocitrate Dehydrogenase ,Male ,Middle Aged ,Mutation ,Oligodendroglioma ,Sarcoma ,Oligosarcoma ,Gliosarcoma ,1p ,19q ,Codeletion ,SMA ,YAP1 ,NF1 ,TP53 ,TERT ,DNA methylation ,Type ,Subtype ,Variant ,Prognosis ,1p/19q ,Clinical Sciences ,Neurosciences ,Neurology & Neurosurgery - Abstract
Oligodendrogliomas are defined at the molecular level by the presence of an IDH mutation and codeletion of chromosomal arms 1p and 19q. In the past, case reports and small studies described gliomas with sarcomatous features arising from oligodendrogliomas, so called oligosarcomas. Here, we report a series of 24 IDH-mutant oligosarcomas from 23 patients forming a distinct methylation class. The tumors were recurrences from prior oligodendrogliomas or developed de novo. Precursor tumors of 12 oligosarcomas were histologically and molecularly indistinguishable from conventional oligodendrogliomas. Oligosarcoma tumor cells were embedded in a dense network of reticulin fibers, frequently showing p53 accumulation, positivity for SMA and CALD1, loss of OLIG2 and gain of H3K27 trimethylation (H3K27me3) as compared to primary lesions. In 5 oligosarcomas no 1p/19q codeletion was detectable, although it was present in the primary lesions. Copy number neutral LOH was determined as underlying mechanism. Oligosarcomas harbored an increased chromosomal copy number variation load with frequent CDKN2A/B deletions. Proteomic profiling demonstrated oligosarcomas to be highly distinct from conventional CNS WHO grade 3 oligodendrogliomas with consistent evidence for a smooth muscle differentiation. Expression of several tumor suppressors was reduced with NF1 being lost frequently. In contrast, oncogenic YAP1 was aberrantly overexpressed in oligosarcomas. Panel sequencing revealed mutations in NF1 and TP53 along with IDH1/2 and TERT promoter mutations. Survival of patients was significantly poorer for oligosarcomas as first recurrence than for grade 3 oligodendrogliomas as first recurrence. These results establish oligosarcomas as a distinct group of IDH-mutant gliomas differing from conventional oligodendrogliomas on the histologic, epigenetic, proteomic, molecular and clinical level. The diagnosis can be based on the combined presence of (a) sarcomatous histology, (b) IDH-mutation and (c) TERT promoter mutation and/or 1p/19q codeletion, or, in unresolved cases, on its characteristic DNA methylation profile.
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- 2022
31. Transcriptome analysis stratifies second-generation non-WNT/non-SHH medulloblastoma subgroups into clinically tractable subtypes
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Korshunov, Andrey, Okonechnikov, Konstantin, Schrimpf, Daniel, Tonn, Svenja, Mynarek, Martin, Koster, Jan, Sievers, Philipp, Milde, Till, Sahm, Felix, Jones, David T. W., von Deimling, Andreas, Pfister, Stefan M., and Kool, Marcel
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- 2023
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32. Glioneuronal tumor with ATRX alteration, kinase fusion and anaplastic features (GTAKA): a molecularly distinct brain tumor type with recurrent NTRK gene fusions
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Bogumil, Henri, Sill, Martin, Schrimpf, Daniel, Ismer, Britta, Blume, Christina, Rahmanzade, Ramin, Hinz, Felix, Cherkezov, Asan, Banan, Rouzbeh, Friedel, Dennis, Reuss, David E., Selt, Florian, Ecker, Jonas, Milde, Till, Pajtler, Kristian W., Schittenhelm, Jens, Hench, Jürgen, Frank, Stephan, Boldt, Henning B., Kristensen, Bjarne Winther, Scheie, David, Melchior, Linea C., Olesen, Viola, Sehested, Astrid, Boué, Daniel R., Abdullaev, Zied, Satgunaseelan, Laveniya, Kurth, Ina, Seidlitz, Annekatrin, White, Christine L., Ng, Ho-Keung, Shi, Zhi-Feng, Haberler, Christine, Deckert, Martina, Timmer, Marco, Goldbrunner, Roland, Tauziède-Espariat, Arnault, Varlet, Pascale, Brandner, Sebastian, Alexandrescu, Sanda, Snuderl, Matija, Aldape, Kenneth, Korshunov, Andrey, Witt, Olaf, Herold-Mende, Christel, Unterberg, Andreas, Wick, Wolfgang, Pfister, Stefan M., von Deimling, Andreas, Jones, David T. W., Sahm, Felix, and Sievers, Philipp
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- 2023
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33. Burden of Uncontrolled Severe Asthma With and Without Elevated Type-2 Inflammatory Biomarkers
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del Olmo, Ricardo, Anderson, Gary, Reddel, Helen, Rabahi, Marcelo, McIvor, Andrew, Sadatsafavi, Mohsen, Weinreich, Ulla, Burgel, Pierre-Régis, Devouassoux, Gilles, Papi, Alberto, Inoue, Hiromasa, Rendon, Adrián, van den Berge, Maarten, Beasley, Richard, García-Navarro, Alvar Agusti, Faner, Rosa, Rivera, José Olaguibel, Janson, Christer, Bilińska-Izydorczyk, Magdalena, Fagerås, Malin, Fihn-Wikander, Titti, Franzén, Stefan, Keen, Christina, Ostridge, Kristoffer, Chalmers, James, Harrison, Timothy, Pavord, Ian, Price, David, Azim, Adnan, Belton, Laura, Blé, Francois-Xavier, Erhard, Clement, Gairy, Kerry, Hughes, Rod, Lassi, Glenda, Müllerová, Hana, Rapsomaniki, Eleni, Scott, Ian Christopher, Chipps, Bradley, Christenson, Stephanie, Make, Barry, Tomaszewski, Erin, Benhabib, Gabriel, Ruiz, Xavier Bocca, Lisanti, Raul Eduardo, Marino, Gustavo, Mattarucco, Walter, Nogueira, Juan, Parody, Maria, Pascale, Pablo, Rodriguez, Pablo, Silva, Damian, Svetliza, Graciela, Victorio, Carlos F., Rolon, Roxana Willigs, Yañez, Anahi, Baines, Stuart, Bowler, Simon, Bremner, Peter, Bull, Sheetal, Carroll, Patrick, Chaalan, Mariam, Farah, Claude, Hammerschlag, Gary, Hancock, Kerry, Harrington, Zinta, Katsoulotos, Gregory, Kim, Joshua, Langton, David, Lee, Donald, Peters, Matthew, Prassad, Lakshman, Sajkov, Dimitar, Santiago, Francis, Simpson, Frederick Graham, Tai, Sze, Thomas, Paul, Wark, Peter, Delfini Cançado, José Eduardo, Cunha, Thúlio, Lima, Marina, Cardoso, Alexandre Pinto, FitzGerald, J. Mark, Anees, Syed, Bertley, John, Bell, Alan, Cheema, Amarjit, Chouinard, Guy, Csanadi, Michael, Dhar, Anil, Dhillon, Ripple, Kanawaty, David, Kelly, Allan, Killorn, William, Landry, Daniel, Luton, Robert, Mandhane, Piushkumar, Pek, Bonavuth, Petrella, Robert, Stollery, Daniel, Wang, Chen, Chen, Meihua, Chen, Yan, Gu, Wei, Christopher Hui, Kim Ming, Li, Manxiang, Li, Shiyue, Lijun, Ma, Qin, Guangyue, Song, Weidong, Tan, Wei, Tang, Yijun, Wang, Tan, Wen, Fuqiang, Wu, Feng, Xiang, PingChao, Xiao, Zuke, Xiong, Shengdao, Yang, Jinghua, Yang, Jingping, Zhang, Caiqing, Zhang, Min, Zhang, Ping, Zhang, Wei, Zheng, Xiaohe, Zhu, Dan, Bueno, Carlos Matiz, Grimaldos, Fabio Bolivar, Arboleda, Alejandra Cañas, Molina de Salazar, Dora, Bendstrup, Elisabeth, Hilberg, Ole, Kjellerup, Carsten, Raherison, Chantal, Bonniaud, Philippe, Brun, Olivier, Chouaid, Christos, Couturaud, Francis, de Blic, Jacques, Debieuvre, Didier, Delsart, Dominique, Demaegdt, Axelle, Demoly, Pascal, Deschildre, Antoine, Egron, Carole, Falchero, Lionel, Goupil, François, Kessler, Romain, Le Roux, Pascal, Mabire, Pascal, Mahay, Guillaume, Martinez, Stéphanie, Melloni, Boris, Moreau, Laurent, Riviere, Emilie, Roux-Claudé, Pauline, Soulier, Michel, Vignal, Guillaume, Yaici, Azzedine, Bals, Robert, Aries, Sven Philip, Beck, Ekkehard, Deimling, Andreas, Feimer, Jan, Grimm-Sachs, Vera, Groth, Gesine, Herth, Felix, Hoheisel, Gerhard, Kanniess, Frank, Lienert, Thomas, Mronga, Silke, Reinhardt, Jörg, Schlenska, Christian, Stolpe, Christoph, Teber, Ishak, Timmermann, Hartmut, Ulrich, Thomas, Velling, Peter, Wehgartner-Winkler, Sabina, Welling, Juergen, Winkelmann, Ernst-Joachim, Barbetta, Carlo, Braido, Fulvio, Cardaci, Vittorio, Clini, Enrico Maria, Costantino, Maria Teresa, Cuttitta, Giuseppina, di Gioacchino, Mario, Fois, Alessandro, Foschino-Barbaro, Maria Pia, Gammeri, Enrico, Inchingolo, Riccardo, Lavorini, Federico, Molino, Antonio, Nucera, Eleonora, Patella, Vincenzo, Pesci, Alberto, Ricciardolo, Fabio, Rogliani, Paola, Sarzani, Riccardo, Vancheri, Carlo, Vincenti, Rigoletta, Endo, Takeo, Fujita, Masaki, Hara, Yu, Horiguchi, Takahiko, Hosoi, Keita, Ide, Yumiko, Inomata, Minehiko, Inoue, Koji, Inoue, Sumito, Kato, Motokazu, Kawasaki, Masayuki, Kawayama, Tomotaka, Kita, Toshiyuki, Kobayashi, Kanako, Koto, Hiroshi, Nishi, Koichi, Saito, Junpei, Shimizu, Yasuo, Shirai, Toshihiro, Sugihara, Naruhiko, Takahashi, Ken-ichi, Tashimo, Hiroyuki, Tomii, Keisuke, Yamada, Takashi, Yanai, Masaru, Rendon, Adrian, Javier, Ruth Cerino, Peregrina, Alfredo Domínguez, Corzo, Marco Fernández, Gonzalez, Efraín Montano, Ramírez-Venegas, Alejandra, Boersma, Willem, Djamin, R.S., Eijsvogel, Michiel, Franssen, Frits, Goosens, Martijn, Graat-Verboom, Lidwien, Veen, Johannes in 't, Janssen, Rob, Kuppens, Kim, van de Ven, Mario, Bakke, Per, Brunstad, Ole Petter, Einvik, Gunnar, Høines, Kristian Jong, Khusrawi, Alamdar, Oien, Torbjorn, Yoon, Ho Joo, Chang, Yoon-Seok, Cho, Young Joo, Hwang, Yong Il, Kim, Woo Jin, Koh, Young-Il, Lee, Byung-Jae, Lee, Kwan-Ho, Lee, Sang-Pyo, Lee, Yong Chul, Lim, Seong Yong, Min, Kyung Hun, Oh, Yeon-Mok, Park, Choon-Sik, Park, Hae-Sim, Park, Heung-Woo, Rhee, Chin Kook, Yoon, Hyoung-Kyu, Andújar, Rubén, Anoro, Laura, García, María Buendía, Mozo, Paloma Campo, Campos, Sergio, Maldonado, Francisco Casas, Martínez, Manuel Castilla, Serrano, Carolina Cisneros, Casanova, Lorena Comeche, Corbacho, Dolores, Del Campo Matías, Felix, Echave-Sustaeta, Jose, Corral, Gloria Francisco, Setién, Pedro Gamboa, Clemente, Marta García, Núñez, Ignacio García, Robaina, Jose García, Salmones, Mercedes García, Marín Trigo, Jose Maria, Fernandez, Marta Nuñez, Palomo, Sara Nuñez, Pérez de Llano, Luis, Bastida, Ana Pueyo, Rañó, Ana, González-Moro, José Rodríguez, Reig, Albert Roger, Garrido, José Velasco, Curiac, Dan, Lif-Tiberg, Cornelia, Luts, Anders, Råhlen, Lennart, Rustscheff, Stefan, Adams, Frances, Bradman, Drew, Broughton, Emma, Cosgrove, John, Flood-Page, Patrick, Fuller, Elizabeth, Hartley, David, Hattotuwa, Keith, Jones, Gareth, Lewis, Keir, McGarvey, Lorcan, Morice, Alyn, Pandya, Preeti, Patel, Manish, Roy, Kay, Sathyamurthy, Ramamurthy, Thiagarajan, Swaminathan, Turner, Alice, Vestbo, Jorgen, Wedzicha, Wisia, Wilkinson, Tom, Wilson, Pete, Al-Asadi, Lo’Ay, Anholm, James, Averill, Francis, Bansal, Sandeep, Baptist, Alan, Campbell, Colin, Campos, Michael A., Crook, Gretchen, DeLeon, Samuel, Eid, Alain, Epstein, Ellen, Fritz, Stephen, Harris, Hoadley, Hewitt, Mitzie, Holguin, Fernando, Hudes, Golda, Jackson, Richard, Kaufman, Alan, Kaufman, David, Klapholz, Ari, Krishna, Harshavardhan, Lee, Daria, Lin, Robert, Maselli-Caceres, Diego, Mehta, Vinay, Moy, James N., Nwokoro, Ugo, Parikh, Purvi, Parikh, Sudhir, Perrino, Frank, Ruhlmann, James, Sassoon, Catherine, Settipane, Russell A., Sousa, Daniel, Sriram, Peruvemba, Wachs, Richard, Ding, Bo, Chen, Stephanie, Quinton, Anna, Cook, William, and Reddel, Helen K.
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- 2024
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34. Genetic and epigenetic characterization of posterior pituitary tumors
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Schmid, Simone, Solomon, David A, Perez, Eilis, Thieme, Anne, Kleinschmidt-DeMasters, Bette K, Giannini, Caterina, Reinhardt, Annekathrin, Asa, Sylvia L, Mete, Ozgur, Stichel, Damian, Siewert, Christin, Dittmayer, Carsten, Hasselblatt, Martin, Paulus, Werner, Nagel, Christoph, Harter, Patrick N, Schittenhelm, Jens, Honegger, Jürgen, Rushing, Elisabeth, Coras, Roland, Pfister, Stefan M, Buslei, Rolf, Koch, Arend, Perry, Arie, Jones, David TW, von Deimling, Andreas, Capper, David, and Lopes, M Beatriz
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Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Genetics ,Human Genome ,Cancer ,Aetiology ,2.1 Biological and endogenous factors ,Adenoma ,Oxyphilic ,Epigenesis ,Genetic ,Granular Cell Tumor ,Humans ,Pituitary Neoplasms ,Pituicytoma ,Spindle cell oncocytoma ,Granular cell tumor ,Posterior pituitary gland neoplasms ,Molecular neuropathology ,Brain tumor ,Clinical Sciences ,Neurosciences ,Neurology & Neurosurgery - Abstract
Pituicytoma (PITUI), granular cell tumor (GCT), and spindle cell oncocytoma (SCO) are rare tumors of the posterior pituitary. Histologically, they may be challenging to distinguish and have been proposed to represent a histological spectrum of a single entity. We performed targeted next-generation sequencing, DNA methylation profiling, and copy number analysis on 47 tumors (14 PITUI; 12 GCT; 21 SCO) to investigate molecular features and explore possibilities of clinically meaningful tumor subclassification. We detected two main epigenomic subgroups by unsupervised clustering of DNA methylation data, though the overall methylation differences were subtle. The largest group (n = 23) contained most PITUIs and a subset of SCOs and was enriched for pathogenic mutations within genes in the MAPK/PI3K pathways (12/17 [71%] of sequenced tumors: FGFR1 (3), HRAS (3), BRAF (2), NF1 (2), CBL (1), MAP2K2 (1), PTEN (1)) and two with accompanying TERT promoter mutation. The second group (n = 16) contained most GCTs and a subset of SCOs, all of which mostly lacked identifiable genetic drivers. Outcome analysis demonstrated that the presence of chromosomal imbalances was significantly associated with reduced progression-free survival especially within the combined PITUI and SCO group (p = 0.031). In summary, we observed only subtle DNA methylation differences between posterior pituitary tumors, indicating that these tumors may be best classified as subtypes of a single entity. Nevertheless, our data indicate differences in mutation patterns and clinical outcome. For a clinically meaningful subclassification, we propose a combined histo-molecular approach into three subtypes: one subtype is defined by granular cell histology, scarcity of identifiable oncogenic mutations, and favorable outcome. The other two subtypes have either SCO or PITUI histology but are segregated by chromosomal copy number profile into a favorable group (no copy number changes) and a less favorable group (copy number imbalances present). Both of the latter groups have recurrent MAPK/PI3K genetic alterations that represent potential therapeutic targets.
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- 2021
35. Subgroup and subtype-specific outcomes in adult medulloblastoma.
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Coltin, Hallie, Sundaresan, Lakshmikirupa, Smith, Kyle, Skowron, Patryk, Massimi, Luca, Eberhart, Charles, Schreck, Karisa, Gupta, Nalin, Weiss, William, Tirapelli, Daniela, Carlotti, Carlos, Li, Kay, Ryzhova, Marina, Golanov, Andrey, Zheludkova, Olga, Absalyamova, Oksana, Okonechnikov, Konstantin, Stichel, Damian, von Deimling, Andreas, Giannini, Caterina, Raskin, Scott, Van Meir, Erwin, Chan, Jennifer, Fults, Daniel, Chambless, Lola, Kim, Seung-Ki, Vasiljevic, Alexandre, Faure-Conter, Cecile, Vibhakar, Rajeev, Jung, Shin, Leary, Sarah, Mora, Jaume, McLendon, Roger, Pollack, Ian, Hauser, Peter, Grajkowska, Wieslawa, Rubin, Joshua, van Veelen, Marie-Lise, French, Pim, Kros, Johan, Liau, Linda, Pfister, Stefan, Kool, Marcel, Kijima, Noriyuki, Taylor, Michael, Packer, Roger, Northcott, Paul, Korshunov, Andrey, and Ramaswamy, Vijay
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Adult ,DNA methylation profiling ,Medulloblastoma ,Molecular groups ,Risk stratification ,Adolescent ,Adult ,Biomarkers ,Tumor ,Cerebellar Neoplasms ,Cohort Studies ,Female ,Humans ,Male ,Medulloblastoma ,Progression-Free Survival ,Risk Factors ,Young Adult - Abstract
Medulloblastoma, a common pediatric malignant central nervous system tumour, represent a small proportion of brain tumours in adults. Previously it has been shown that in adults, Sonic Hedgehog (SHH)-activated tumours predominate, with Wingless-type (WNT) and Group 4 being less common, but molecular risk stratification remains a challenge. We performed an integrated analysis consisting of genome-wide methylation profiling, copy number profiling, somatic nucleotide variants and correlation of clinical variables across a cohort of 191 adult medulloblastoma cases identified through the Medulloblastoma Advanced Genomics International Consortium. We identified 30 WNT, 112 SHH, 6 Group 3, and 41 Group 4 tumours. Patients with SHH tumours were significantly older at diagnosis compared to other subgroups (p
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- 2021
36. The Epigenetic Landscape of Meningiomas
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Wang, Justin Z., Nassiri, Farshad, Aldape, Kenneth, von Deimling, Andreas, Sahm, Felix, Crusio, Wim E., Series Editor, Dong, Haidong, Series Editor, Radeke, Heinfried H., Series Editor, Rezaei, Nima, Series Editor, Steinlein, Ortrud, Series Editor, Xiao, Junjie, Series Editor, Zadeh, Gelareh, editor, Goldbrunner, Roland, editor, Krischek, Boris, editor, and Nassiri, Farshad, editor
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- 2023
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37. The 2021 WHO Classification of Tumors of the Central Nervous System: a summary
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Louis, David N, Perry, Arie, Wesseling, Pieter, Brat, Daniel J, Cree, Ian A, Figarella-Branger, Dominique, Hawkins, Cynthia, Ng, HK, Pfister, Stefan M, Reifenberger, Guido, Soffietti, Riccardo, von Deimling, Andreas, and Ellison, David W
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Brain Disorders ,Cancer ,Brain Cancer ,Rare Diseases ,Neurosciences ,Brain ,Central Nervous System ,Central Nervous System Neoplasms ,Humans ,Pathology ,Molecular ,World Health Organization ,brian tumor ,central nervous system ,classification ,diagnosis ,brain tumor ,Oncology and Carcinogenesis ,Oncology & Carcinogenesis - Abstract
The fifth edition of the WHO Classification of Tumors of the Central Nervous System (CNS), published in 2021, is the sixth version of the international standard for the classification of brain and spinal cord tumors. Building on the 2016 updated fourth edition and the work of the Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy, the 2021 fifth edition introduces major changes that advance the role of molecular diagnostics in CNS tumor classification. At the same time, it remains wedded to other established approaches to tumor diagnosis such as histology and immunohistochemistry. In doing so, the fifth edition establishes some different approaches to both CNS tumor nomenclature and grading and it emphasizes the importance of integrated diagnoses and layered reports. New tumor types and subtypes are introduced, some based on novel diagnostic technologies such as DNA methylome profiling. The present review summarizes the major general changes in the 2021 fifth edition classification and the specific changes in each taxonomic category. It is hoped that this summary provides an overview to facilitate more in-depth exploration of the entire fifth edition of the WHO Classification of Tumors of the Central Nervous System.
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- 2021
38. Dedifferentiated and Undifferentiated Ovarian Carcinoma: An Aggressive and Molecularly Distinct Ovarian Tumor Characterized by Frequent SWI/SNF Complex Inactivation
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Tessier-Cloutier, Basile, Kommoss, Felix K.F., Kolin, David L., Němejcová, Kristýna, Smith, DuPreez, Pors, Jennifer, Stewart, Colin J.R., McCluggage, W Glenn, Foulkes, William D., von Deimling, Andreas, Köbel, Martin, and Lee, Cheng-Han
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- 2024
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39. Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology
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Sturm, Dominik, Capper, David, Andreiuolo, Felipe, Gessi, Marco, Kölsche, Christian, Reinhardt, Annekathrin, Sievers, Philipp, Wefers, Annika K., Ebrahimi, Azadeh, Suwala, Abigail K., Gielen, Gerrit H., Sill, Martin, Schrimpf, Daniel, Stichel, Damian, Hovestadt, Volker, Daenekas, Bjarne, Rode, Agata, Hamelmann, Stefan, Previti, Christopher, Jäger, Natalie, Buchhalter, Ivo, Blattner-Johnson, Mirjam, Jones, Barbara C., Warmuth-Metz, Monika, Bison, Brigitte, Grund, Kerstin, Sutter, Christian, Hirsch, Steffen, Dikow, Nicola, Hasselblatt, Martin, Schüller, Ulrich, Koch, Arend, Gerber, Nicolas U., White, Christine L., Buntine, Molly K., Kinross, Kathryn, Algar, Elizabeth M., Hansford, Jordan R., Gottardo, Nicholas G., Schuhmann, Martin U., Thomale, Ulrich W., Hernáiz Driever, Pablo, Gnekow, Astrid, Witt, Olaf, Müller, Hermann L., Calaminus, Gabriele, Fleischhack, Gudrun, Kordes, Uwe, Mynarek, Martin, Rutkowski, Stefan, Frühwald, Michael C., Kramm, Christof M., von Deimling, Andreas, Pietsch, Torsten, Sahm, Felix, Pfister, Stefan M., and Jones, David. T. W.
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- 2023
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40. Correction to: Amplification of the PLAG-family genes—PLAGL1 and PLAGL2—is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification
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Keck, Michaela-Kristina, Sill, Martin, Wittmann, Andrea, Joshi, Piyush, Stichel, Damian, Beck, Pengbo, Okonechnikow, Konstantin, Sievers, Philipp, Wefers, Annika K., Roncaroli, Federico, Avula, Shivaram, McCabe, Martin G., Hayden, James T., Wesseling, Pieter, Øra, Ingrid, Nistér, Monica, Kranendonk, Mariëtte E. G., Tops, Bastiaan B. J., Zapotocky, Michal, Zamecnik, Josef, Vasiljevic, Alexandre, Fenouil, Tanguy, Meyronet, David, von Hoff, Katja, Schüller, Ulrich, Loiseau, Hugues, Figarella-Branger, Dominique, Kramm, Christof M., Sturm, Dominik, Scheie, David, Rauramaa, Tuomas, Pesola, Jouni, Gojo, Johannes, Haberler, Christine, Brandner, Sebastian, Jacques, Tom, Sexton Oates, Alexandra, Saffery, Richard, Koscielniak, Ewa, Baker, Suzanne J., Yip, Stephen, Snuderl, Matija, Ud Din, Nasir, Samuel, David, Schramm, Kathrin, Blattner-Johnson, Mirjam, Selt, Florian, Ecker, Jonas, Milde, Till, von Deimling, Andreas, Korshunov, Andrey, Perry, Arie, Pfister, Stefan M., Sahm, Felix, Solomon, David A., and Jones, David T. W.
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- 2023
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41. Glioblastomas with primitive neuronal component harbor a distinct methylation and copy-number profile with inactivation of TP53, PTEN, and RB1
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Suwala, Abigail K, Stichel, Damian, Schrimpf, Daniel, Maas, Sybren LN, Sill, Martin, Dohmen, Hildegard, Banan, Rouzbeh, Reinhardt, Annekathrin, Sievers, Philipp, Hinz, Felix, Blattner-Johnson, Mirjam, Hartmann, Christian, Schweizer, Leonille, Boldt, Henning B, Kristensen, Bjarne Winther, Schittenhelm, Jens, Wood, Matthew D, Chotard, Guillaume, Bjergvig, Rolf, Das, Anirban, Tabori, Uri, Hasselblatt, Martin, Korshunov, Andrey, Abdullaev, Zied, Quezado, Martha, Aldape, Kenneth, Harter, Patrick N, Snuderl, Matija, Hench, Jürgen, Frank, Stephan, Acker, Till, Brandner, Sebastian, Winkler, Frank, Wesseling, Pieter, Pfister, Stefan M, Reuss, David E, Wick, Wolfgang, von Deimling, Andreas, Jones, David TW, and Sahm, Felix
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Biomedical and Clinical Sciences ,Clinical Sciences ,Oncology and Carcinogenesis ,Brain Disorders ,Human Genome ,Brain Cancer ,Neurosciences ,Cancer ,Rare Diseases ,Genetics ,2.1 Biological and endogenous factors ,Aetiology ,Brain Neoplasms ,Chromosomes ,Human ,Pair 1 ,Chromosomes ,Human ,Pair 7 ,Cohort Studies ,Cyclin-Dependent Kinase Inhibitor p16 ,DNA Copy Number Variations ,DNA Methylation ,Female ,Gene Deletion ,Glial Fibrillary Acidic Protein ,Glioblastoma ,Humans ,Male ,Middle Aged ,Neuroectodermal Tumors ,Primitive ,PTEN Phosphohydrolase ,Retinoblastoma Binding Proteins ,Tumor Suppressor Protein p53 ,Ubiquitin-Protein Ligases ,GBM ,PNET ,DNA methylation ,Phenotype ,Classification ,Plasticity ,Neurology & Neurosurgery - Abstract
Glioblastoma IDH-wildtype presents with a wide histological spectrum. Some features are so distinctive that they are considered as separate histological variants or patterns for the purpose of classification. However, these usually lack defined (epi-)genetic alterations or profiles correlating with this histology. Here, we describe a molecular subtype with overlap to the unique histological pattern of glioblastoma with primitive neuronal component. Our cohort consists of 63 IDH-wildtype glioblastomas that harbor a characteristic DNA methylation profile. Median age at diagnosis was 59.5 years. Copy-number variations and genetic sequencing revealed frequent alterations in TP53, RB1 and PTEN, with fewer gains of chromosome 7 and homozygous CDKN2A/B deletions than usually described for IDH-wildtype glioblastoma. Gains of chromosome 1 were detected in more than half of the cases. A poorly differentiated phenotype with frequent absence of GFAP expression, high proliferation index and strong staining for p53 and TTF1 often caused misleading histological classification as carcinoma metastasis or primitive neuroectodermal tumor. Clinically, many patients presented with leptomeningeal dissemination and spinal metastasis. Outcome was poor with a median overall survival of only 12 months. Overall, we describe a new molecular subtype of IDH-wildtype glioblastoma with a distinct histological appearance and genetic signature.
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- 2021
42. Clear cell meningiomas are defined by a highly distinct DNA methylation profile and mutations in SMARCE1
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Sievers, Philipp, Sill, Martin, Blume, Christina, Tauziede-Espariat, Arnault, Schrimpf, Daniel, Stichel, Damian, Reuss, David E, Dogan, Helin, Hartmann, Christian, Mawrin, Christian, Hasselblatt, Martin, Stummer, Walter, Schick, Uta, Hench, Jürgen, Frank, Stephan, Ketter, Ralf, Schweizer, Leonille, Schittenhelm, Jens, Puget, Stéphanie, Brandner, Sebastian, Jaunmuktane, Zane, Küsters, Benno, Abdullaev, Zied, Pekmezci, Melike, Snuderl, Matija, Ratliff, Miriam, Herold-Mende, Christel, Unterberg, Andreas, Aldape, Kenneth, Ellison, David W, Wesseling, Pieter, Reifenberger, Guido, Wick, Wolfgang, Perry, Arie, Varlet, Pascale, Pfister, Stefan M, Jones, David TW, von Deimling, Andreas, and Sahm, Felix
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Human Genome ,Brain Disorders ,Pediatric ,Cancer ,Genetics ,Rare Diseases ,Brain Cancer ,Aetiology ,2.1 Biological and endogenous factors ,Brain Neoplasms ,Child ,Chromosomal Proteins ,Non-Histone ,Cohort Studies ,DNA Methylation ,DNA Mutational Analysis ,DNA ,Neoplasm ,DNA-Binding Proteins ,Disease Progression ,Epigenesis ,Genetic ,Female ,Genome-Wide Association Study ,Humans ,Immunohistochemistry ,Male ,Meningioma ,Mutation ,Neoplasm Recurrence ,Local ,Treatment Outcome ,Young Adult ,Brain tumor ,Clear cell ,SMARCE1 ,DNA methylation profile ,German Consortium “Aggressive Meningiomas” ,Clinical Sciences ,Neurosciences ,Neurology & Neurosurgery - Abstract
Clear cell meningioma represents an uncommon variant of meningioma that typically affects children and young adults. Although an enrichment of loss-of-function mutations in the SMARCE1 gene has been reported for this subtype, comprehensive molecular investigations are lacking. Here we describe a molecularly distinct subset of tumors (n = 31), initially identified through genome-wide DNA methylation screening among a cohort of 3093 meningiomas, of which most were diagnosed histologically as clear cell meningioma. This cohort was further supplemented by an additional 11 histologically diagnosed clear cell meningiomas for analysis (n = 42). Targeted DNA sequencing revealed SMARCE1 mutations in 33/34 analyzed samples, accompanied by a nuclear loss of expression determined via immunohistochemistry and a decreased SMARCE1 transcript expression in the tumor cells. Analysis of time to progression or recurrence of patients within the clear cell meningioma group (n = 14) in comparison to those with meningioma WHO grade 2 (n = 220) revealed a similar outcome and support the assignment of WHO grade 2 to these tumors. Our findings indicate the existence of a highly distinct epigenetic signature of clear cell meningiomas, separate from all other variants of meningiomas, with recurrent mutations in the SMARCE1 gene. This suggests that these tumors may arise from a different precursor cell population than the broad spectrum of the other meningioma subtypes.
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- 2021
43. Establishment and validation of preclinical models of SMARCA4-inactivated and ARID1A/ARID1B co-inactivated dedifferentiated endometrial carcinoma
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Wong, Nelson K.Y., Llaurado Fernandez, Marta, Kommoss, Felix K.F., Praveen Kumar, Pooja, Kim, Hannah, Liu, Jiahui, Zhang, Guihua, Coatham, Mackenzie, Lin, Yen-Yi, Haegert, Anne M., Volik, Stanislav, Le Bihan, Stephane, Collins, Colin C., Fu, Yangxin, Postovit, Lynne M., von Deimling, Andreas, Wu, Rebecca, Xue, Hui, Wang, Yuzhuo, Köbel, Martin, Carey, Mark S., and Lee, Cheng-Han
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- 2023
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44. Cluster Analyses From the Real-World NOVELTY Study: Six Clusters Across the Asthma-COPD Spectrum
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Olmo, Ricardo del, Anderson, Gary, Reddel, Helen, Rabahi, Marcelo, McIvor, Andrew, Sadatsafavi, Mohsen, Weinreich, Ulla, Burgel, Pierre-Régis, Devouassoux, Gilles, Papi, Alberto, Inoue, Hiromasa, Rendon, Adrián, van den Berge, Maarten, Beasley, Richard, García-Navarro, Alvar Agusti, Faner, Rosa, Olaguibel Rivera, José, Janson, Christer, Bilińska-Izydorczyk, Magdalena, Fagerås, Malin, Fihn-Wikander, Titti, Franzén, Stefan, Keen, Christina, Ostridge, Kristoffer, Chalmers, James, Harrison, Timothy, Pavord, Ian, Price, David, Azim, Adnan, Belton, Laura, Blé, Francois-Xavier, Erhard, Clement, Gairy, Kerry, Hughes, Rod, Lassi, Glenda, Müllerová, Hana, Rapsomaniki, Eleni, Scott, Ian Christopher, Chipps, Bradley, Christenson, Stephanie, Make, Barry, Tomaszewski, Erin, Benhabib, Gabriel, Ruiz, Xavier Bocca, Lisanti, Raul Eduardo, Marino, Gustavo, Mattarucco, Walter, Nogueira, Juan, Parody, Maria, Pascale, Pablo, Rodriguez, Pablo, Silva, Damian, Svetliza, Graciela, Victorio, Carlos F., Rolon, Roxana Willigs, Yañez, Anahi, Baines, Stuart, Bowler, Simon, Bremner, Peter, Bull, Sheetal, Carroll, Patrick, Chaalan, Mariam, Farah, Claude, Hammerschlag, Gary, Hancock, Kerry, Harrington, Zinta, Katsoulotos, Gregory, Kim, Joshua, Langton, David, Lee, Donald, Peters, Matthew, Prassad, Lakshman, Sajkov, Dimitar, Santiago, Francis, Simpson, Frederick Graham, Tai, Sze, Thomas, Paul, Wark, Peter, Cançado, José Eduardo Delfini, Cunha, Thúlio, Lima, Marina, Cardoso, Alexandre Pinto, FitzGerald, J. Mark, Anees, Syed, Bertley, John, Bell, Alan, Cheema, Amarjit, Chouinard, Guy, Csanadi, Michael, Dhar, Anil, Dhillon, Ripple, Kanawaty, David, Kelly, Allan, Killorn, William, Landry, Daniel, Luton, Robert, Mandhane, Piushkumar, Pek, Bonavuth, Petrella, Robert, Stollery, Daniel, Wang, Chen, Chen, Meihua, Chen, Yan, Gu, Wei, Christopher Hui, Kim Ming, Li, Manxiang, Li, Shiyue, Lijun, Ma, Qin, Guangyue, Song, Weidong, Tan, Wei, Tang, Yijun, Wang, Tan, Wen, Fuqiang, Wu, Feng, Xiang, PingChao, Xiao, Zuke, Xiong, Shengdao, Yang, Jinghua, Yang, Jingping, Zhang, Caiqing, Zhang, Min, Zhang, Ping, Zhang, Wei, Zheng, Xiaohe, Zhu, Dan, Bueno, Carlos Matiz, Grimaldos, Fabio Bolivar, Arboleda, Alejandra Cañas, de Salazar, Dora Molina, Bendstrup, Elisabeth, Hilberg, Ole, Kjellerup, Carsten, Raherison, Chantal, Bonniaud, Philippe, Brun, Olivier, Chouaid, Christos, Couturaud, Francis, de Blic, Jacques, Debieuvre, Didier, Delsart, Dominique, Demaegdt, Axelle, Demoly, Pascal, Deschildre, Antoine, Egron, Carole, Falchero, Lionel, Goupil, François, Kessler, Romain, Le Roux, Pascal, Mabire, Pascal, Mahay, Guillaume, Martinez, Stéphanie, Melloni, Boris, Moreau, Laurent, Riviere, Emilie, Roux-Claudé, Pauline, Soulier, Michel, Vignal, Guillaume, Yaici, Azzedine, Bals, Robert, Aries, Sven Philip, Beck, Ekkehard, Deimling, Andreas, Feimer, Jan, Grimm-Sachs, Vera, Groth, Gesine, Herth, Felix, Hoheisel, Gerhard, Kanniess, Frank, Lienert, Thomas, Mronga, Silke, Reinhardt, Jörg, Schlenska, Christian, Stolpe, Christoph, Teber, Ishak, Timmermann, Hartmut, Ulrich, Thomas, Velling, Peter, Wehgartner-Winkler, Sabina, Welling, Juergen, Winkelmann, Ernst-Joachim, Barbetta, Carlo, Braido, Fulvio, Cardaci, Vittorio, Clini, Enrico Maria, Costantino, Maria Teresa, Cuttitta, Giuseppina, di Gioacchino, Mario, Fois, Alessandro, Foschino-Barbaro, Maria Pia, Gammeri, Enrico, Inchingolo, Riccardo, Lavorini, Federico, Molino, Antonio, Nucera, Eleonora, Patella, Vincenzo, Pesci, Alberto, Ricciardolo, Fabio, Rogliani, Paola, Sarzani, Riccardo, Vancheri, Carlo, Vincenti, Rigoletta, Endo, Takeo, Fujita, Masaki, Hara, Yu, Horiguchi, Takahiko, Hosoi, Keita, Ide, Yumiko, Inomata, Minehiko, Inoue, Koji, Inoue, Sumito, Kato, Motokazu, Kawasaki, Masayuki, Kawayama, Tomotaka, Kita, Toshiyuki, Kobayashi, Kanako, Koto, Hiroshi, Nishi, Koichi, Saito, Junpei, Shimizu, Yasuo, Shirai, Toshihiro, Sugihara, Naruhiko, Takahashi, Ken-ichi, Tashimo, Hiroyuki, Tomii, Keisuke, Yamada, Takashi, Yanai, Masaru, Rendon, Adrian, Cerino Javier, Ruth, Domínguez Peregrina, Alfredo, Fernández Corzo, Marco, Montano Gonzalez, Efraín, Ramírez-Venegas, Alejandra, Boersma, Willem, Djamin, R.S., Eijsvogel, Michiel, Franssen, Frits, Goosens, Martijn, Graat-Verboom, Lidwien, Veen, Johannes in 't, Janssen, Rob, Kuppens, Kim, van de Ven, Mario, Bakke, Per, Brunstad, Ole Petter, Einvik, Gunnar, Høines, Kristian Jong, Khusrawi, Alamdar, Oien, Torbjorn, Yoon, Ho Joo, Chang, Yoon-Seok, Cho, Young Joo, Hwang, Yong Il, Kim, Woo Jin, Koh, Young-Il, Lee, Byung-Jae, Lee, Kwan-Ho, Lee, Sang-Pyo, Lee, Yong Chul, Lim, Seong Yong, Min, Kyung Hun, Oh, Yeon-Mok, Park, Choon-Sik, Park, Hae-Sim, Park, Heung-Woo, Rhee, Chin Kook, Yoon, Hyoung-Kyu, García-Navarro, Alvar Agustí, Andújar, Rubén, Anoro, Laura, Buendía García, María, Mozo, Paloma Campo, Campos, Sergio, Casas Maldonado, Francisco, Castilla Martínez, Manuel, Cisneros Serrano, Carolina, Comeche Casanova, Lorena, Corbacho, Dolores, Campo Matías, Felix Del, Echave-Sustaeta, Jose, Corral, Gloria Francisco, Gamboa Setién, Pedro, García Clemente, Marta, Núñez, Ignacio García, García Robaina, Jose, García Salmones, Mercedes, Marín Trigo, Jose Maria, Fernandez, Marta Nuñez, Palomo, Sara Nuñez, Pérez de Llano, Luis, Pueyo Bastida, Ana, Rañó, Ana, Rodríguez González-Moro, José, Reig, Albert Roger, Velasco Garrido, José, Curiac, Dan, Lif-Tiberg, Cornelia, Luts, Anders, Råhlen, Lennart, Rustscheff, Stefan, Adams, Frances, Bradman, Drew, Broughton, Emma, Cosgrove, John, Flood-Page, Patrick, Fuller, Elizabeth, Hartley, David, Hattotuwa, Keith, Jones, Gareth, Lewis, Keir, McGarvey, Lorcan, Morice, Alyn, Pandya, Preeti, Patel, Manish, Roy, Kay, Sathyamurthy, Ramamurthy, Thiagarajan, Swaminathan, Turner, Alice, Vestbo, Jørgen, Wedzicha, Wisia, Wilkinson, Tom, Wilson, Pete, Al-Asadi, Lo’Ay, Anholm, James, Averill, Francis, Bansal, Sandeep, Baptist, Alan, Campbell, Colin, Campos, Michael A., Crook, Gretchen, DeLeon, Samuel, Eid, Alain, Epstein, Ellen, Fritz, Stephen, Harris, Hoadley, Hewitt, Mitzie, Holguin, Fernando, Hudes, Golda, Jackson, Richard, Kaufman, Alan, Kaufman, David, Klapholz, Ari, Krishna, Harshavardhan, Lee, Daria, Lin, Robert, Maselli-Caceres, Diego, Mehta, Vinay, Moy, James N., Nwokoro, Ugo, Parikh, Purvi, Parikh, Sudhir, Perrino, Frank, Ruhlmann, James, Sassoon, Catherine, Settipane, Russell A., Sousa, Daniel, Sriram, Peruvemba, Wachs, Richard, Bansal, Aruna T., Agustí, Alvar, Fageras, Malin, Alacqua, Marianna, and Reddel, Helen K.
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- 2023
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45. A Novel Type of IDH-wildtype Glioma Characterized by Gliomatosis Cerebri-like Growth Pattern, TERT Promoter Mutation, and Distinct Epigenetic Profile
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Muench, Amos, Teichmann, Daniel, Spille, Dorothee, Kuzman, Peter, Perez, Eilis, May, Sven-Axel, Mueller, Wolf C., Kombos, Theodoros, Nazari-Dehkordi, Shokufe, Onken, Julia, Vajkoczy, Peter, Ntoulias, Georgios, Bettencourt, Conceição, von Deimling, Andreas, Paulus, Werner, Heppner, Frank L., Koch, Arend, Capper, David, Kaul, David, Thomas, Christian, and Schweizer, Leonille
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- 2023
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46. Long-term survival with IDH wildtype glioblastoma: first results from the ETERNITY Brain Tumor Funders’ Collaborative Consortium (EORTC 1419)
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Hertler, Caroline, Felsberg, Jörg, Gramatzki, Dorothee, Le Rhun, Emilie, Clarke, Jennifer, Soffietti, Riccardo, Wick, Wolfgang, Chinot, Olivier, Ducray, François, Roth, Patrick, McDonald, Kerrie, Hau, Peter, Hottinger, Andreas F., Reijneveld, Jaap, Schnell, Oliver, Marosi, Christine, Glantz, Michael, Darlix, Amélie, Lombardi, Giuseppe, Krex, Dietmar, Glas, Martin, Reardon, David A., van den Bent, Martin, Lefranc, Florence, Herrlinger, Ulrich, Razis, Evangelia, Carpentier, Antoine F., Phillips, Samuel, Rudà, Roberta, Wick, Antje, Tabouret, Emeline, Meyronet, David, Maurage, Claude-Alain, Rushing, Elisabeth, Rapkins, Robert, Bumes, Elisabeth, Hegi, Monika, Weyerbrock, Astrid, Aregawi, Dawit, Gonzalez-Gomez, Christian, Pellerino, Alessia, Klein, Martin, Preusser, Matthias, Bendszus, Martin, Golfinopoulos, Vassilis, von Deimling, Andreas, Gorlia, Thierry, Wen, Patrick Y., Reifenberger, Guido, and Weller, Michael
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- 2023
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47. A subset of pediatric-type thalamic gliomas share a distinct DNA methylation profile, H3K27me3 loss and frequent alteration of EGFR.
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Sievers, Philipp, Sill, Martin, Schrimpf, Daniel, Stichel, Damian, Reuss, David E, Sturm, Dominik, Hench, Jürgen, Frank, Stephan, Krskova, Lenka, Vicha, Ales, Zapotocky, Michal, Bison, Brigitte, Castel, David, Grill, Jacques, Debily, Marie-Anne, Harter, Patrick N, Snuderl, Matija, Kramm, Christof M, Reifenberger, Guido, Korshunov, Andrey, Jabado, Nada, Wesseling, Pieter, Wick, Wolfgang, Solomon, David A, Perry, Arie, Jacques, Thomas S, Jones, Chris, Witt, Olaf, Pfister, Stefan M, von Deimling, Andreas, Jones, David TW, and Sahm, Felix
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Brain Disorders ,Pediatric Cancer ,Cancer ,Pediatric ,Brain Cancer ,Rare Diseases ,Genetics ,Neurosciences ,Brain Neoplasms ,Child ,DNA Methylation ,ErbB Receptors ,Genes ,erbB-1 ,Glioma ,Histones ,Humans ,Mutation ,Thalamus ,(bi)thalamic ,EGFR mutation ,H3 K27M mutation ,K27me3 ,pediatric-type high-grade glioma ,EGFR mutation ,Oncology and Carcinogenesis ,Oncology & Carcinogenesis - Abstract
BackgroundMalignant astrocytic gliomas in children show a remarkable biological and clinical diversity. Small in-frame insertions or missense mutations in the epidermal growth factor receptor gene (EGFR) have recently been identified in a distinct subset of pediatric-type bithalamic gliomas with a unique DNA methylation pattern.MethodsHere, we investigated an epigenetically homogeneous cohort of malignant gliomas (n = 58) distinct from other subtypes and enriched for pediatric cases and thalamic location, in comparison with this recently identified subtype of pediatric bithalamic gliomas.ResultsEGFR gene amplification was detected in 16/58 (27%) tumors, and missense mutations or small in-frame insertions in EGFR were found in 20/30 tumors with available sequencing data (67%; 5 of them co-occurring with EGFR amplification). Additionally, 8 of the 30 tumors (27%) harbored an H3.1 or H3.3 K27M mutation (6 of them with a concomitant EGFR alteration). All tumors tested showed loss of H3K27me3 staining, with evidence of overexpression of the EZH inhibitory protein (EZHIP) in the H3 wildtype cases. Although some tumors indeed showed a bithalamic growth pattern, a significant proportion of tumors occurred in the unilateral thalamus or in other (predominantly midline) locations.ConclusionsOur findings present a distinct molecular class of pediatric-type malignant gliomas largely overlapping with the recently reported bithalamic gliomas characterized by EGFR alteration, but additionally showing a broader spectrum of EGFR alterations and tumor localization. Global H3K27me3 loss in this group appears to be mediated by either H3 K27 mutation or EZHIP overexpression. EGFR inhibition may represent a potential therapeutic strategy in these highly aggressive gliomas.
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- 2021
48. Author Correction: Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology
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Sturm, Dominik, Capper, David, Andreiuolo, Felipe, Gessi, Marco, Kölsche, Christian, Reinhardt, Annekathrin, Sievers, Philipp, Wefers, Annika K., Ebrahimi, Azadeh, Suwala, Abigail K., Gielen, Gerrit H., Sill, Martin, Schrimpf, Daniel, Stichel, Damian, Hovestadt, Volker, Daenekas, Bjarne, Rode, Agata, Hamelmann, Stefan, Previti, Christopher, Jäger, Natalie, Buchhalter, Ivo, Blattner-Johnson, Mirjam, Jones, Barbara C., Warmuth-Metz, Monika, Bison, Brigitte, Grund, Kerstin, Sutter, Christian, Hirsch, Steffen, Dikow, Nicola, Hasselblatt, Martin, Schüller, Ulrich, Koch, Arend, Gerber, Nicolas U., White, Christine L., Buntine, Molly K., Kinross, Kathryn, Algar, Elizabeth M., Hansford, Jordan R., Gottardo, Nicholas G., Schuhmann, Martin U., Thomale, Ulrich W., Hernáiz Driever, Pablo, Gnekow, Astrid, Witt, Olaf, Müller, Hermann L., Calaminus, Gabriele, Fleischhack, Gudrun, Kordes, Uwe, Mynarek, Martin, Rutkowski, Stefan, Frühwald, Michael C., Kramm, Christof M., von Deimling, Andreas, Pietsch, Torsten, Sahm, Felix, Pfister, Stefan M., and Jones, David. T. W.
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- 2024
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49. Identification of low and very high-risk patients with non-WNT/non-SHH medulloblastoma by improved clinico-molecular stratification of the HIT2000 and I-HIT-MED cohorts
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Mynarek, Martin, Obrecht, Denise, Sill, Martin, Sturm, Dominik, Kloth-Stachnau, Katja, Selt, Florian, Ecker, Jonas, von Hoff, Katja, Juhnke, Björn-Ole, Goschzik, Tobias, Pietsch, Torsten, Bockmayr, Michael, Kool, Marcel, von Deimling, Andreas, Witt, Olaf, Schüller, Ulrich, Benesch, Martin, Gerber, Nicolas U., Sahm, Felix, Jones, David T. W., Korshunov, Andrey, Pfister, Stefan M., Rutkowski, Stefan, and Milde, Till
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- 2023
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50. Epigenetic profiling reveals a subset of pediatric-type glioneuronal tumors characterized by oncogenic gene fusions involving several targetable kinases
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Sievers, Philipp, Sill, Martin, Schrimpf, Daniel, Friedel, Dennis, Sturm, Dominik, Gardberg, Maria, Kurian, Kathreena M., Krskova, Lenka, Vicha, Ales, Schaller, Tina, Hagel, Christian, Abdullaev, Zied, Aldape, Kenneth, Jacques, Thomas S., Korshunov, Andrey, Wick, Wolfgang, Pfister, Stefan M., von Deimling, Andreas, Jones, David T. W., and Sahm, Felix
- Published
- 2022
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