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1. Multi-omic and single-cell profiling of chromothriptic medulloblastoma reveals genomic and transcriptomic consequences of genome instability

Author

Smirnov, Petr, Przybilla, Moritz J., Simovic-Lorenz, Milena, Parra, R. Gonzalo, Susak, Hana, Ratnaparkhe, Manasi, Wong, John KL., Körber, Verena, Mallm, Jan-Philipp, Philippos, George, Sill, Martin, Kolb, Thorsten, Kumar, Rithu, Casiraghi, Nicola, Okonechnikov, Konstantin, Ghasemi, David R., Maaß, Kendra Korinna, Pajtler, Kristian W., Jauch, Anna, Korshunov, Andrey, Höfer, Thomas, Zapatka, Marc, Pfister, Stefan M., Huber, Wolfgang, Stegle, Oliver, and Ernst, Aurélie

Published
2024
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2. EpiDiP/NanoDiP: a versatile unsupervised machine learning edge computing platform for epigenomic tumour diagnostics

Author

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

Published
2024
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3. Clinical and molecular study of radiation-induced gliomas

Author

Trkova, Katerina, Sumerauer, David, Bubenikova, Adela, Krskova, Lenka, Vicha, Ales, Koblizek, Miroslav, Zamecnik, Josef, Jurasek, Bruno, Kyncl, Martin, Malinova, Bela, Ondrova, Barbora, Jones, David T. W., Sill, Martin, Strnadova, Martina, Stolova, Lucie, Misove, Adela, Benes, III, Vladimir, and Zapotocky, Michal

Published
2024
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4. Amplification of the PLAG-family genes—PLAGL1 and PLAGL2—is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification

Author

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

Subjects
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.

Published
2023

5. Genetical and epigenetical profiling identifies two subgroups of pineal parenchymal tumors of intermediate differentiation (PPTID) with distinct molecular, histological and clinical characteristics

Author

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

Published
2023
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6. Glioneuronal tumor with ATRX alteration, kinase fusion and anaplastic features (GTAKA): a molecularly distinct brain tumor type with recurrent NTRK gene fusions

Author

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

Published
2023
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7. Molecular characterisation defines clinically-actionable heterogeneity within Group 4 medulloblastoma and improves disease risk-stratification

Author

Goddard, Jack, Castle, Jemma, Southworth, Emily, Fletcher, Anya, Crosier, Stephen, Martin-Guerrero, Idoia, García-Ariza, Miguel, Navajas, Aurora, Masliah-Planchon, Julien, Bourdeaut, Franck, Dufour, Christelle, Ayrault, Olivier, Goschzik, Tobias, Pietsch, Torsten, Sill, Martin, Pfister, Stefan M., Rutkowski, Stefan, Richardson, Stacey, Hill, Rebecca M., Williamson, Daniel, Bailey, Simon, Schwalbe, Edward C., Clifford, Steven C., and Hicks, Debbie

Published
2023
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8. Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology

Author

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.

Published
2023
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9. 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

Author

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.

Published
2023
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10. Mouse models of pediatric high-grade gliomas with MYCN amplification reveal intratumoral heterogeneity and lineage signatures

Author

Schoof, Melanie, Godbole, Shweta, Albert, Thomas K., Dottermusch, Matthias, Walter, Carolin, Ballast, Annika, Qin, Nan, Olivera, Marlena Baca, Göbel, Carolin, Neyazi, Sina, Holdhof, Dörthe, Kresbach, Catena, Peter, Levke-Sophie, Epplen, Gefion Dorothea, Thaden, Vanessa, Spohn, Michael, Blattner-Johnson, Mirjam, Modemann, Franziska, Mynarek, Martin, Rutkowski, Stefan, Sill, Martin, Varghese, Julian, Afflerbach, Ann-Kristin, Eckhardt, Alicia, Münter, Daniel, Verma, Archana, Struve, Nina, Jones, David T. W., Remke, Marc, Neumann, Julia E., Kerl, Kornelius, and Schüller, Ulrich

Published
2023
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11. Transcriptional immunogenomic analysis reveals distinct immunological clusters in paediatric nervous system tumours

Author

Nabbi, Arash, Beck, Pengbo, Delaidelli, Alberto, Oldridge, Derek A., Sudhaman, Sumedha, Zhu, Kelsey, Yang, S. Y. Cindy, Mulder, David T., Bruce, Jeffrey P., Paulson, Joseph N., Raman, Pichai, Zhu, Yuankun, Resnick, Adam C., Sorensen, Poul H., Sill, Martin, Brabetz, Sebastian, Lambo, Sander, Malkin, David, Johann, Pascal D., Kool, Marcel, Jones, David T. W., Pfister, Stefan M., Jäger, Natalie, and Pugh, Trevor J.

Published
2023
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12. Pediatric-type high-grade neuroepithelial tumors with CIC gene fusion share a common DNA methylation signature

Author

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.

Published
2023
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13. Author Correction: Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology

Author

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.

Published
2024
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14. 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

Author

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

Published
2023
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15. Epigenetic profiling reveals a subset of pediatric-type glioneuronal tumors characterized by oncogenic gene fusions involving several targetable kinases

Author

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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16. Molecular diagnostics enables detection of actionable targets: the Pediatric Targeted Therapy 2.0 registry

Author

Ecker, Jonas, Selt, Florian, Sturm, Dominik, Sill, Martin, Korshunov, Andrey, Hirsch, Steffen, Capper, David, Dikow, Nicola, Sutter, Christian, Müller, Carina, Sigaud, Romain, Eggert, Angelika, Simon, Thorsten, Niehues, Tim, von Deimling, Andreas, Pajtler, Kristian W., van Tilburg, Cornelis M., Jones, David T.W., Sahm, Felix, Pfister, Stefan M., Witt, Olaf, and Milde, Till

Published
2023
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17. Integrated genomic analysis reveals actionable targets in pediatric spinal cord low-grade gliomas

Author

Misove Adela, Vicha Ales, Broz Petr, Vanova Katerina, Sumerauer David, Stolova Lucie, Sramkova Lucie, Koblizek Miroslav, Zamecnik Josef, Kyncl Martin, Holubova Zuzana, Liby Petr, Taborsky Jakub, Benes Vladimir, Pernikova Ivana, Jones T. W. David, Sill Martin, Stancokova Terezia, Krskova Lenka, and Zapotocky Michal

Subjects
Spinal cord, Low-grade glioma, KIAA1549:BRAF fusion, NTRK fusion, Methylation profiling, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Gliomas are the most common central nervous tumors in children and adolescents. However, spinal cord low-grade gliomas (sLGGs) are rare, with scarce information on tumor genomics and epigenomics. To define the molecular landscape of sLGGs, we integrated clinical data, histology, and multi-level genetic and epigenetic analyses on a consecutive cohort of 26 pediatric patients. Driver molecular alteration was found in 92% of patients (24/26). A novel variant of KIAA1549:BRAF fusion (ex10:ex9) was identified using RNA-seq in four cases. Importantly, only one-third of oncogenic drivers could be revealed using standard diagnostic methods, and two-thirds of pediatric patients with sLGGs required extensive molecular examination. The majority (23/24) of detected alterations were potentially druggable targets. Four patients in our cohort received targeted therapy with MEK or NTRK inhibitors. Three of those exhibited clinical improvement (two with trametinib, one with larotrectinib), and two patients achieved partial response. Methylation profiling was implemented to further refine the diagnosis and revealed intertumoral heterogeneity in sLGGs. Although 55% of tumors clustered with pilocytic astrocytoma, other rare entities were identified in this patient population. In particular, diffuse leptomeningeal glioneuronal tumors (n = 3) and high-grade astrocytoma with piloid features (n = 1) and pleomorphic xanthoastrocytoma (n = 1) were present. A proportion of tumors (14%) had no match with the current version of the classifier. Complex molecular genetic sLGGs characterization was invaluable to refine diagnosis, which has proven to be essential in such a rare tumor entity. Moreover, identifying a high proportion of drugable targets in sLGGs opened an opportunity for new treatment modalities.

Published
2022
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18. Rapid-CNS2: rapid comprehensive adaptive nanopore-sequencing of CNS tumors, a proof-of-concept study

Author

Patel, Areeba, Dogan, Helin, Payne, Alexander, Krause, Elena, Sievers, Philipp, Schoebe, Natalie, Schrimpf, Daniel, Blume, Christina, Stichel, Damian, Holmes, Nadine, Euskirchen, Philipp, Hench, Jürgen, Frank, Stephan, Rosenstiel-Goidts, Violaine, Ratliff, Miriam, Etminan, Nima, Unterberg, Andreas, Dieterich, Christoph, Herold-Mende, Christel, Pfister, Stefan M., Wick, Wolfgang, Loose, Matthew, von Deimling, Andreas, Sill, Martin, Jones, David T. W., Schlesner, Matthias, and Sahm, Felix

Published
2022
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19. Correction to: Integrated genomic analysis reveals actionable targets in pediatric spinal cord low-grade gliomas

Author

Misove, Adela, Vicha, Ales, Broz, Petr, Vanova, Katerina, Sumerauer, David, Stolova, Lucie, Sramkova, Lucie, Koblizek, Miroslav, Zamecnik, Josef, Kyncl, Martin, Holubova, Zuzana, Liby, Petr, Taborsky, Jakub, Benes, III, Vladimir, Pernikova, Ivana, Jones, David T. W., Sill, Martin, Stancokova, Terezia, Krskova, Lenka, and Zapotocky, Michal

Published
2022
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20. DNA methylation-based classification of sinonasal tumors

Author

Jurmeister, Philipp, Glöß, Stefanie, Roller, Renée, Leitheiser, Maximilian, Schmid, Simone, Mochmann, Liliana H., Payá Capilla, Emma, Fritz, Rebecca, Dittmayer, Carsten, Friedrich, Corinna, Thieme, Anne, Keyl, Philipp, Jarosch, Armin, Schallenberg, Simon, Bläker, Hendrik, Hoffmann, Inga, Vollbrecht, Claudia, Lehmann, Annika, Hummel, Michael, Heim, Daniel, Haji, Mohamed, Harter, Patrick, Englert, Benjamin, Frank, Stephan, Hench, Jürgen, Paulus, Werner, Hasselblatt, Martin, Hartmann, Wolfgang, Dohmen, Hildegard, Keber, Ursula, Jank, Paul, Denkert, Carsten, Stadelmann, Christine, Bremmer, Felix, Richter, Annika, Wefers, Annika, Ribbat-Idel, Julika, Perner, Sven, Idel, Christian, Chiariotti, Lorenzo, Della Monica, Rosa, Marinelli, Alfredo, Schüller, Ulrich, Bockmayr, Michael, Liu, Jacklyn, Lund, Valerie J., Forster, Martin, Lechner, Matt, Lorenzo-Guerra, Sara L., Hermsen, Mario, Johann, Pascal D., Agaimy, Abbas, Seegerer, Philipp, Koch, Arend, Heppner, Frank, Pfister, Stefan M., Jones, David T. W., Sill, Martin, von Deimling, Andreas, Snuderl, Matija, Müller, Klaus-Robert, Forgó, Erna, Howitt, Brooke E., Mertins, Philipp, Klauschen, Frederick, and Capper, David

Published
2022
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21. Drug sensitivity profiling of 3D tumor tissue cultures in the pediatric precision oncology program INFORM

Author

Peterziel, Heike, Jamaladdin, Nora, ElHarouni, Dina, Gerloff, Xenia F., Herter, Sonja, Fiesel, Petra, Berker, Yannick, Blattner-Johnson, Mirjam, Schramm, Kathrin, Jones, Barbara C., Reuss, David, Turunen, Laura, Friedenauer, Aileen, Holland-Letz, Tim, Sill, Martin, Weiser, Lena, Previti, Christopher, Balasubramanian, Gnanaprakash, Gerber, Nicolas U., Gojo, Johannes, Hutter, Caroline, Øra, Ingrid, Lohi, Olli, Kattamis, Antonis, de Wilde, Bram, Westermann, Frank, Tippelt, Stephan, Graf, Norbert, Nathrath, Michaela, Sparber-Sauer, Monika, Sehested, Astrid, Kramm, Christof M., Dirksen, Uta, Kallioniemi, Olli, Pfister, Stefan M., van Tilburg, Cornelis M., Jones, David T. W., Saarela, Jani, Pietiäinen, Vilja, Jäger, Natalie, Schlesner, Matthias, Kopp-Schneider, Annette, Oppermann, Sina, Milde, Till, Witt, Olaf, and Oehme, Ina

Published
2022
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22. Pleomorphic xanthoastrocytoma is a heterogeneous entity with pTERT mutations prognosticating shorter survival

Author

Ebrahimi, Azadeh, Korshunov, Andrey, Reifenberger, Guido, Capper, David, Felsberg, Joerg, Trisolini, Elena, Pollo, Bianca, Calatozzolo, Chiara, Prinz, Marco, Staszewski, Ori, Schweizer, Leonille, Schittenhelm, Jens, Harter, Patrick N., Paulus, Werner, Thomas, Christian, Kohlhof-Meinecke, Patricia, Seiz-Rosenhagen, Marcel, Milde, Till, Casalini, Belén M., Suwala, Abigail, Wefers, Annika K., Reinhardt, Annekathrin, Sievers, Philipp, Kramm, Christof M., Etminam, Nima, Unterberg, Andreas, Wick, Wolfgang, Herold-Mende, Christel, Sturm, Dominik, Pfister, Stefan M., Sill, Martin, Jones, David T. W., Schrimpf, Daniel, Reuss, David E., Aldape, Ken, Abdullaev, Zied, Sahm, Felix, von Deimling, Andreas, and Stichel, Damian

Published
2022
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23. Versatile, accessible cross-platform molecular profiling of central nervous system tumors: web-based, prospective multi-center validation

Author

Sahm, Felix, primary, Patel, Areeba, additional, Göbel, Kirsten, additional, Hinz, Felix, additional, Ille, Sebastian, additional, Dogan, Helin, additional, Lomakin, Artem, additional, Schrimpf, Daniel, additional, Göller, Pauline, additional, Ritter, Michael, additional, Kerbs, Paul, additional, Pfeifer, Lisa, additional, Schoebe, Natalie, additional, Hamelmann, Stefan, additional, Blume, Christina, additional, Bogumil, Henri, additional, Berghaus, Natalie, additional, Euskirchen, Philipp, additional, Schweizer, Leonille, additional, Hultschig, Claus, additional, Roy, Nadine Van, additional, Dorpe, Jo Van, additional, Meulen, Joni Van der, additional, Loontiens, Siebe, additional, Dedeurwaerdere, Franceska, additional, Leske, Henning, additional, Halldorsson, Skarphedinn, additional, Fox, Graeme, additional, Deacon, Simon, additional, Cahyani, Inswasti, additional, Holmes, Nadine, additional, Wibowo, Satrio, additional, Munro, Rory, additional, Martin, Dan, additional, Sharif, Abid, additional, Housley, Mark, additional, Goldspring, Robert, additional, Brandner, Sebastian, additional, Roy, Somak, additional, Hench, Jürgen, additional, Frank, Stephan, additional, Unterberg, Andreas, additional, Goidts, Violaine, additional, Jäger, Natalie, additional, Paine, Simon, additional, Smith, Stuart, additional, Herold-Mende, Christel, additional, Wick, Wolfgang, additional, Pfister, Stefan, additional, Krieg, Sandro, additional, Vik-Mo, Einar, additional, von Deimling, Andreas, additional, Jones, David, additional, Loose, Matthew, additional, Schlesner, Matthias, additional, and Sill, Martin, additional

Published
2024
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24. GOPC:ROS1 and other ROS1 fusions represent a rare but recurrent drug target in a variety of glioma types

Author

Sievers, Philipp, Stichel, Damian, Sill, Martin, Schrimpf, Daniel, Sturm, Dominik, Selt, Florian, Ecker, Jonas, Kazdal, Daniel, Miele, Evelina, Kranendonk, Mariëtte E. G., Tops, Bastiaan B. J., Kohlhof-Meinecke, Patricia, Beschorner, Rudi, Kramm, Christof M., Hasselblatt, Martin, Reifenberger, Guido, Capper, David, Wesseling, Pieter, Stenzinger, Albrecht, Milde, Till, Korshunov, Andrey, Witt, Olaf, Pfister, Stefan M., Wick, Wolfgang, von Deimling, Andreas, Jones, David T. W., and Sahm, Felix

Published
2021
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25. Treatment response as surrogate to predict risk for disease progression in pediatric medulloblastoma with persistent magnetic resonance imaging lesions after first-line treatment.

Author

Obrecht-Sturm, Denise, Schömig, Lena, Mynarek, Martin, Bison, Brigitte, Schwarz, Rudolf, Pietsch, Torsten, Pfister, Stefan M, Sill, Martin, Sturm, Dominik, Sahm, Felix, Kortmann, Rolf-Dieter, Gerber, Nicolas U, Bueren, André O von, Fleischhack, Gudrun, Schüller, Ulrich, Nussbaumer, Gunther, Benesch, Martin, and Rutkowski, Stefan

Published
2024
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26. Somatic gene delivery for flexible in vivo modeling of high-risk sarcoma

Author

Imle, Roland, primary, Blösel, Daniel, additional, Kommoss, Felix K.F., additional, Zhao, Eric Stutheit, additional, Autry, Robert, additional, Blume, Christina, additional, Lupar, Dmitry, additional, Schmitt, Lukas, additional, Winter, Claudia, additional, Wagner, Lena, additional, Placke, Sara, additional, von Eicke, Malte, additional, Hertwig, Michael, additional, Peterziel, Heike, additional, Oehme, Ina, additional, Scheuerman, Sophia, additional, Seitz, Christian, additional, Geyer, Florian H., additional, Cidre-Aranaz, Florencia, additional, Grünewald, Thomas G. P., additional, Vokuhl, Christian, additional, Chudasama, Priya, additional, Scholl, Claudia, additional, Schmidt, Claudia, additional, Günther, Patrick, additional, Sill, Martin, additional, Jones, Kevin B., additional, Pfister, Stefan M., additional, and Banito, Ana, additional

Published
2024
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28. Sarcoma classification by DNA methylation profiling

Author

Koelsche, Christian, Schrimpf, Daniel, Stichel, Damian, Sill, Martin, Sahm, Felix, Reuss, David E., Blattner, Mirjam, Worst, Barbara, Heilig, Christoph E., Beck, Katja, Horak, Peter, Kreutzfeldt, Simon, Paff, Elke, Stark, Sebastian, Johann, Pascal, Selt, Florian, Ecker, Jonas, Sturm, Dominik, Pajtler, Kristian W., Reinhardt, Annekathrin, Wefers, Annika K., Sievers, Philipp, Ebrahimi, Azadeh, Suwala, Abigail, Fernández-Klett, Francisco, Casalini, Belén, Korshunov, Andrey, Hovestadt, Volker, Kommoss, Felix K. F., Kriegsmann, Mark, Schick, Matthias, Bewerunge-Hudler, Melanie, Milde, Till, Witt, Olaf, Kulozik, Andreas E., Kool, Marcel, Romero-Pérez, Laura, Grünewald, Thomas G. P., Kirchner, Thomas, Wick, Wolfgang, Platten, Michael, Unterberg, Andreas, Uhl, Matthias, Abdollahi, Amir, Debus, Jürgen, Lehner, Burkhard, Thomas, Christian, Hasselblatt, Martin, Paulus, Werner, Hartmann, Christian, Staszewski, Ori, Prinz, Marco, Hench, Jürgen, Frank, Stephan, Versleijen-Jonkers, Yvonne M. H., Weidema, Marije E., Mentzel, Thomas, Griewank, Klaus, de Álava, Enrique, Martín, Juan Díaz, Gastearena, Miguel A. Idoate, Chang, Kenneth Tou-En, Low, Sharon Yin Yee, Cuevas-Bourdier, Adrian, Mittelbronn, Michel, Mynarek, Martin, Rutkowski, Stefan, Schüller, Ulrich, Mautner, Viktor F., Schittenhelm, Jens, Serrano, Jonathan, Snuderl, Matija, Büttner, Reinhard, Klingebiel, Thomas, Buslei, Rolf, Gessler, Manfred, Wesseling, Pieter, Dinjens, Winand N. M., Brandner, Sebastian, Jaunmuktane, Zane, Lyskjær, Iben, Schirmacher, Peter, Stenzinger, Albrecht, Brors, Benedikt, Glimm, Hanno, Heining, Christoph, Tirado, Oscar M., Sáinz-Jaspeado, Miguel, Mora, Jaume, Alonso, Javier, del Muro, Xavier Garcia, Moran, Sebastian, Esteller, Manel, Benhamida, Jamal K., Ladanyi, Marc, Wardelmann, Eva, Antonescu, Cristina, Flanagan, Adrienne, Dirksen, Uta, Hohenberger, Peter, Baumhoer, Daniel, Hartmann, Wolfgang, Vokuhl, Christian, Flucke, Uta, Petersen, Iver, Mechtersheimer, Gunhild, Capper, David, Jones, David T. W., Fröhling, Stefan, Pfister, Stefan M., and von Deimling, Andreas

Published
2021
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29. Radiation-induced gliomas represent H3-/IDH-wild type pediatric gliomas with recurrent PDGFRA amplification and loss of CDKN2A/B

Author

Deng, Maximilian Y., Sturm, Dominik, Pfaff, Elke, Sill, Martin, Stichel, Damian, Balasubramanian, Gnana Prakash, Tippelt, Stephan, Kramm, Christof, Donson, Andrew M., Green, Adam L., Jones, Chris, Schittenhelm, Jens, Ebinger, Martin, Schuhmann, Martin U., Jones, Barbara C., van Tilburg, Cornelis M., Wittmann, Andrea, Golanov, Andrey, Ryzhova, Marina, Ecker, Jonas, Milde, Till, Witt, Olaf, Sahm, Felix, Reuss, David, Sumerauer, David, Zamecnik, Josef, Korshunov, Andrey, von Deimling, Andreas, Pfister, Stefan M., and Jones, David T. W.

Published
2021
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30. PATH-64. COMPREHENSIVE CNS TUMOUR MOLECULAR DIAGNOSTICS USING THIRD GENERATION SEQUENCING

Author

Patel, Areeba, primary, Hinz, Felix, additional, Dogan, Helin, additional, Goebel, Kirsten, additional, Schrimpf, Daniel, additional, Goeller, Pauline, additional, Ritter, Michael, additional, Pfeifer, Lisa, additional, Blume, Christina, additional, Berghaus, Natalie, additional, Payne, Alexander, additional, Goidts, Violaine, additional, Loose, Matthew, additional, Unterberg, Andreas, additional, Wick, Wolfgang, additional, Pfister, Stefan, additional, Sill, Martin, additional, von Deimling, Andreas, additional, Jones, David, additional, Schlesner, Matthias, additional, and Sahm, Felix, additional

Published
2023
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31. Author Correction: Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology

Author

Sturm, Dominik, primary, Capper, David, additional, Andreiuolo, Felipe, additional, Gessi, Marco, additional, Kölsche, Christian, additional, Reinhardt, Annekathrin, additional, Sievers, Philipp, additional, Wefers, Annika K., additional, Ebrahimi, Azadeh, additional, Suwala, Abigail K., additional, Gielen, Gerrit H., additional, Sill, Martin, additional, Schrimpf, Daniel, additional, Stichel, Damian, additional, Hovestadt, Volker, additional, Daenekas, Bjarne, additional, Rode, Agata, additional, Hamelmann, Stefan, additional, Previti, Christopher, additional, Jäger, Natalie, additional, Buchhalter, Ivo, additional, Blattner-Johnson, Mirjam, additional, Jones, Barbara C., additional, Warmuth-Metz, Monika, additional, Bison, Brigitte, additional, Grund, Kerstin, additional, Sutter, Christian, additional, Hirsch, Steffen, additional, Dikow, Nicola, additional, Hasselblatt, Martin, additional, Schüller, Ulrich, additional, Koch, Arend, additional, Gerber, Nicolas U., additional, White, Christine L., additional, Buntine, Molly K., additional, Kinross, Kathryn, additional, Algar, Elizabeth M., additional, Hansford, Jordan R., additional, Gottardo, Nicholas G., additional, Schuhmann, Martin U., additional, Thomale, Ulrich W., additional, Hernáiz Driever, Pablo, additional, Gnekow, Astrid, additional, Witt, Olaf, additional, Müller, Hermann L., additional, Calaminus, Gabriele, additional, Fleischhack, Gudrun, additional, Kordes, Uwe, additional, Mynarek, Martin, additional, Rutkowski, Stefan, additional, Frühwald, Michael C., additional, Kramm, Christof M., additional, von Deimling, Andreas, additional, Pietsch, Torsten, additional, Sahm, Felix, additional, Pfister, Stefan M., additional, and Jones, David. T. W., additional

Published
2023
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32. The Site of Origin of Medulloblastoma: Surgical Observations Correlated to Molecular Groups

Author

Ciobanu-Caraus, Olga, primary, Czech, Thomas, additional, Peyrl, Andreas, additional, Haberler, Christine, additional, Kasprian, Gregor, additional, Furtner, Julia, additional, Kool, Marcel, additional, Sill, Martin, additional, Frischer, Josa M., additional, Cho, Anna, additional, Slavc, Irene, additional, Rössler, Karl, additional, Gojo, Johannes, additional, and Dorfer, Christian, additional

Published
2023
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33. Mapping pediatric brain tumors to their origins in the developing cerebellum

Author

Okonechnikov, Konstantin, primary, Joshi, Piyush, additional, Sepp, Mari, additional, Leiss, Kevin, additional, Sarropoulos, Ioannis, additional, Murat, Florent, additional, Sill, Martin, additional, Beck, Pengbo, additional, Chan, Kenneth Chun-Ho, additional, Korshunov, Andrey, additional, Sah, Felix, additional, Deng, Maximilian Y, additional, Sturm, Dominik, additional, DeSisto, John, additional, Donson, Andrew M, additional, Foreman, Nicholas K, additional, Green, Adam L, additional, Robinson, Giles, additional, Orr, Brent A, additional, Gao, Qingsong, additional, Darrow, Emily, additional, Hadley, Jennifer L, additional, Northcott, Paul A, additional, Gojo, Johannes, additional, Kawauchi, Daisuke, additional, Hovestadt, Volker, additional, Filbin, Mariella G, additional, von Deimling, Andreas, additional, Zuckermann, Marc, additional, Pajtler, Kristian W, additional, Kool, Marcel, additional, Jones, David T W, additional, Jäger, Natalie, additional, Kutscher, Lena M, additional, Kaessmann, Henrik, additional, and Pfister, Stefan M, additional

Published
2023
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34. Clinical outcome of pediatric medulloblastoma patients with Li–Fraumeni syndrome

Author

Kolodziejczak, Anna S, primary, Guerrini-Rousseau, Lea, additional, Planchon, Julien Masliah, additional, Ecker, Jonas, additional, Selt, Florian, additional, Mynarek, Martin, additional, Obrecht, Denise, additional, Sill, Martin, additional, Autry, Robert J, additional, Stutheit-Zhao, Eric, additional, Hirsch, Steffen, additional, Amouyal, Elsa, additional, Dufour, Christelle, additional, Ayrault, Olivier, additional, Torrejon, Jacob, additional, Waszak, Sebastian M, additional, Ramaswamy, Vijay, additional, Pentikainen, Virve, additional, Demir, Haci Ahmet, additional, Clifford, Steven C, additional, Schwalbe, Ed C, additional, Massimi, Luca, additional, Snuderl, Matija, additional, Galbraith, Kristyn, additional, Karajannis, Matthias A, additional, Hill, Katherine, additional, Li, Bryan K, additional, Walsh, Mike, additional, White, Christine L, additional, Redmond, Shelagh, additional, Loizos, Loizou, additional, Jakob, Marcus, additional, Kordes, Uwe R, additional, Schmid, Irene, additional, Hauer, Julia, additional, Blattmann, Claudia, additional, Filippidou, Maria, additional, Piccolo, Gianluca, additional, Scheurlen, Wolfram, additional, Farrag, Ahmed, additional, Grund, Kerstin, additional, Sutter, Christian, additional, Pietsch, Torsten, additional, Frank, Stephan, additional, Schewe, Denis M, additional, Malkin, David, additional, Ben-Arush, Myriam, additional, Sehested, Astrid, additional, Wong, Tai-Tong, additional, Wu, Kuo-Sheng, additional, Liu, Yen-Lin, additional, Carceller, Fernando, additional, Mueller, Sabine, additional, Stoller, Schuyler, additional, Taylor, Michael D, additional, Tabori, Uri, additional, Bouffet, Eric, additional, Kool, Marcel, additional, Sahm, Felix, additional, von Deimling, Andreas, additional, Korshunov, Andrey, additional, von Hoff, Katja, additional, Kratz, Christian P, additional, Sturm, Dominik, additional, Jones, David T W, additional, Rutkowski, Stefan, additional, van Tilburg, Cornelis M, additional, Witt, Olaf, additional, Bougeard, Gaëlle, additional, Pajtler, Kristian W, additional, Pfister, Stefan M, additional, Bourdeaut, Franck, additional, and Milde, Till, additional

Published
2023
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35. Significant increase of high-risk chromosome 1q gain and 6q loss at recurrence in posterior fossa group A ependymoma: a multicenter study

Author

Donson, Andrew M, primary, Bertrand, Kelsey C, additional, Riemondy, Kent A, additional, Gao, Dexiang, additional, Zhuang, Yonghua, additional, Sanford, Bridget, additional, Norris, Gregory A, additional, Chapman, Rebecca J, additional, Fu, Rui, additional, Willard, Nicholas, additional, Griesinger, Andrea M, additional, de Sousa, Graziella Ribeiro, additional, Amani, Vladimir, additional, Grimaldo, Enrique, additional, Hankinson, Todd C, additional, Booker, Ffyona, additional, Sill, Martin, additional, Grundy, Richard G, additional, Pajtler, Kristian W, additional, Ellison, David W, additional, Foreman, Nicholas K, additional, and Ritzmann, Timothy A, additional

Published
2023
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36. Corrigendum to ‘Molecular diagnostics enables detection of actionable targets: the Pediatric Targeted Therapy 2.0 registry’ [Eur J Cancer 180 (2023) 71–84]

Author

Ecker, Jonas, primary, Selt, Florian, additional, Sturm, Dominik, additional, Sill, Martin, additional, Korshunov, Andrey, additional, Hirsch, Steffen, additional, Capper, David, additional, Dikow, Nicola, additional, Sutter, Christian, additional, Müller, Carina, additional, Sigaud, Romain, additional, Eggert, Angelika, additional, Simon, Thorsten, additional, Niehues, Tim, additional, von Deimling, Andreas, additional, Pajtler, Kristian W., additional, van Tilburg, Cornelis M., additional, Jones, David T.W., additional, Sahm, Felix, additional, Pfister, Stefan M., additional, Witt, Olaf, additional, and Milde, Till, additional

Published
2023
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37. Abstract 234: ITCC-P4: Genomic profiling and analyses of pediatric patient tumor and patient-derived xenograft (PDX) models for high throughput in vivo testing

Author

Gopisetty, Apurva, primary, Federico, Aniello, additional, Surdez, Didier, additional, Iddir, Yasmine, additional, Zaidi, Sakina, additional, Saint-Charles, Alexandra, additional, Waterfall, Joshua, additional, Saberi-Ansari, Elnaz, additional, Wierzbinska, Justyna, additional, Schlicker, Andreas, additional, Mack, Norman, additional, Schwalm, Benjamin, additional, Previti, Christopher, additional, Weiser, Lena, additional, Buchhalter, Ivo, additional, Böttcher, Anna-Lisa, additional, Sill, Martin, additional, Autry, Robert, additional, Estermann, Frank, additional, Jones, David, additional, Volckmann, Richard, additional, Zwijnenburg, Danny, additional, Eggert, Angelika, additional, Heidenreich, Olaf, additional, Iradier, Fatima, additional, Jeremias, Irmela, additional, Kovar, Heinrich, additional, Klusmann, Jan-Henning, additional, Debatin, Klaus-Michael, additional, Bomken, Simon, additional, Hamerlik, Petra, additional, Hattersley, Maureen, additional, Witt, Olaf, additional, Chesler, Louis, additional, Mackay, Alan, additional, Gojo, Johannes, additional, Cairo, Stefano, additional, Schueler, Julia, additional, Schulte, Johannes, additional, Geoerger, Birgit, additional, Molenaar, Jan J., additional, Shields, David J., additional, Caron, Hubert N., additional, Vassal, Gilles, additional, Stancato, Louis F., additional, Pfister, Stefan M., additional, Jaeger, Natalie, additional, Koster, Jan, additional, Kool, Marcel, additional, and Schleiermacher, Gudrun, additional

Published
2023
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38. Data from Cross-Species Genomics Reveals Oncogenic Dependencies in ZFTA/C11orf95 Fusion–Positive Supratentorial Ependymomas

Author

Zheng, Tuyu, primary, Ghasemi, David R., primary, Okonechnikov, Konstantin, primary, Korshunov, Andrey, primary, Sill, Martin, primary, Maass, Kendra K., primary, Benites Goncalves da Silva, Patricia, primary, Ryzhova, Marina, primary, Gojo, Johannes, primary, Stichel, Damian, primary, Arabzade, Amir, primary, Kupp, Robert, primary, Benzel, Julia, primary, Taya, Shinichiro, primary, Adachi, Toma, primary, Shiraishi, Ryo, primary, Gerber, Nicolas U., primary, Sturm, Dominik, primary, Ecker, Jonas, primary, Sievers, Philipp, primary, Selt, Florian, primary, Chapman, Rebecca, primary, Haberler, Christine, primary, Figarella-Branger, Dominique, primary, Reifenberger, Guido, primary, Fleischhack, Gudrun, primary, Rutkowski, Stefan, primary, Donson, Andrew M., primary, Ramaswamy, Vijay, primary, Capper, David, primary, Ellison, David W., primary, Herold-Mende, Christel C., primary, Schüller, Ulrich, primary, Brandner, Sebastian, primary, Driever, Pablo Hernáiz, primary, Kros, Johan M., primary, Snuderl, Matija, primary, Milde, Till, primary, Grundy, Richard G., primary, Hoshino, Mikio, primary, Mack, Stephen C., primary, Gilbertson, Richard J., primary, Jones, David T.W., primary, Kool, Marcel, primary, von Deimling, Andreas, primary, Pfister, Stefan M., primary, Sahm, Felix, primary, Kawauchi, Daisuke, primary, and Pajtler, Kristian W., primary

Published
2023
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39. Data from Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes

Author

Clarke, Matthew, primary, Mackay, Alan, primary, Ismer, Britta, primary, Pickles, Jessica C., primary, Tatevossian, Ruth G., primary, Newman, Scott, primary, Bale, Tejus A., primary, Stoler, Iris, primary, Izquierdo, Elisa, primary, Temelso, Sara, primary, Carvalho, Diana M., primary, Molinari, Valeria, primary, Burford, Anna, primary, Howell, Louise, primary, Virasami, Alex, primary, Fairchild, Amy R., primary, Avery, Aimee, primary, Chalker, Jane, primary, Kristiansen, Mark, primary, Haupfear, Kelly, primary, Dalton, James D., primary, Orisme, Wilda, primary, Wen, Ji, primary, Hubank, Michael, primary, Kurian, Kathreena M., primary, Rowe, Catherine, primary, Maybury, Mellissa, primary, Crosier, Stephen, primary, Knipstein, Jeffrey, primary, Schüller, Ulrich, primary, Kordes, Uwe, primary, Kram, David E., primary, Snuderl, Matija, primary, Bridges, Leslie, primary, Martin, Andrew J., primary, Doey, Lawrence J., primary, Al-Sarraj, Safa, primary, Chandler, Christopher, primary, Zebian, Bassel, primary, Cairns, Claire, primary, Natrajan, Rachael, primary, Boult, Jessica K.R., primary, Robinson, Simon P., primary, Sill, Martin, primary, Dunkel, Ira J., primary, Gilheeney, Stephen W., primary, Rosenblum, Marc K., primary, Hughes, Debbie, primary, Proszek, Paula Z., primary, Macdonald, Tobey J., primary, Preusser, Matthias, primary, Haberler, Christine, primary, Slavc, Irene, primary, Packer, Roger, primary, Ng, Ho-Keung, primary, Caspi, Shani, primary, Popović, Mara, primary, Faganel Kotnik, Barbara, primary, Wood, Matthew D., primary, Baird, Lissa, primary, Davare, Monika Ashok, primary, Solomon, David A., primary, Olsen, Thale Kristin, primary, Brandal, Petter, primary, Farrell, Michael, primary, Cryan, Jane B., primary, Capra, Michael, primary, Karremann, Michael, primary, Schittenhelm, Jens, primary, Schuhmann, Martin U., primary, Ebinger, Martin, primary, Dinjens, Winand N.M., primary, Kerl, Kornelius, primary, Hettmer, Simone, primary, Pietsch, Torsten, primary, Andreiuolo, Felipe, primary, Driever, Pablo Hernáiz, primary, Korshunov, Andrey, primary, Hiddingh, Lotte, primary, Worst, Barbara C., primary, Sturm, Dominik, primary, Zuckermann, Marc, primary, Witt, Olaf, primary, Bloom, Tabitha, primary, Mitchell, Clare, primary, Miele, Evelina, primary, Colafati, Giovanna Stefania, primary, Diomedi-Camassei, Francesca, primary, Bailey, Simon, primary, Moore, Andrew S., primary, Hassall, Timothy E.G., primary, Lowis, Stephen P., primary, Tsoli, Maria, primary, Cowley, Mark J., primary, Ziegler, David S., primary, Karajannis, Matthias A., primary, Aquilina, Kristian, primary, Hargrave, Darren R., primary, Carceller, Fernando, primary, Marshall, Lynley V., primary, von Deimling, Andreas, primary, Kramm, Christof M., primary, Pfister, Stefan M., primary, Sahm, Felix, primary, Baker, Suzanne J., primary, Mastronuzzi, Angela, primary, Carai, Andrea, primary, Vinci, Maria, primary, Capper, David, primary, Popov, Sergey, primary, Ellison, David W., primary, Jacques, Thomas S., primary, Jones, David T.W., primary, and Jones, Chris, primary

Published
2023
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40. Supplementary Table S4 from Cross-Species Genomics Reveals Oncogenic Dependencies in ZFTA/C11orf95 Fusion–Positive Supratentorial Ependymomas

Author

Zheng, Tuyu, primary, Ghasemi, David R., primary, Okonechnikov, Konstantin, primary, Korshunov, Andrey, primary, Sill, Martin, primary, Maass, Kendra K., primary, Benites Goncalves da Silva, Patricia, primary, Ryzhova, Marina, primary, Gojo, Johannes, primary, Stichel, Damian, primary, Arabzade, Amir, primary, Kupp, Robert, primary, Benzel, Julia, primary, Taya, Shinichiro, primary, Adachi, Toma, primary, Shiraishi, Ryo, primary, Gerber, Nicolas U., primary, Sturm, Dominik, primary, Ecker, Jonas, primary, Sievers, Philipp, primary, Selt, Florian, primary, Chapman, Rebecca, primary, Haberler, Christine, primary, Figarella-Branger, Dominique, primary, Reifenberger, Guido, primary, Fleischhack, Gudrun, primary, Rutkowski, Stefan, primary, Donson, Andrew M., primary, Ramaswamy, Vijay, primary, Capper, David, primary, Ellison, David W., primary, Herold-Mende, Christel C., primary, Schüller, Ulrich, primary, Brandner, Sebastian, primary, Driever, Pablo Hernáiz, primary, Kros, Johan M., primary, Snuderl, Matija, primary, Milde, Till, primary, Grundy, Richard G., primary, Hoshino, Mikio, primary, Mack, Stephen C., primary, Gilbertson, Richard J., primary, Jones, David T.W., primary, Kool, Marcel, primary, von Deimling, Andreas, primary, Pfister, Stefan M., primary, Sahm, Felix, primary, Kawauchi, Daisuke, primary, and Pajtler, Kristian W., primary

Published
2023
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41. Supplementary Data from Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes

Author

Clarke, Matthew, primary, Mackay, Alan, primary, Ismer, Britta, primary, Pickles, Jessica C., primary, Tatevossian, Ruth G., primary, Newman, Scott, primary, Bale, Tejus A., primary, Stoler, Iris, primary, Izquierdo, Elisa, primary, Temelso, Sara, primary, Carvalho, Diana M., primary, Molinari, Valeria, primary, Burford, Anna, primary, Howell, Louise, primary, Virasami, Alex, primary, Fairchild, Amy R., primary, Avery, Aimee, primary, Chalker, Jane, primary, Kristiansen, Mark, primary, Haupfear, Kelly, primary, Dalton, James D., primary, Orisme, Wilda, primary, Wen, Ji, primary, Hubank, Michael, primary, Kurian, Kathreena M., primary, Rowe, Catherine, primary, Maybury, Mellissa, primary, Crosier, Stephen, primary, Knipstein, Jeffrey, primary, Schüller, Ulrich, primary, Kordes, Uwe, primary, Kram, David E., primary, Snuderl, Matija, primary, Bridges, Leslie, primary, Martin, Andrew J., primary, Doey, Lawrence J., primary, Al-Sarraj, Safa, primary, Chandler, Christopher, primary, Zebian, Bassel, primary, Cairns, Claire, primary, Natrajan, Rachael, primary, Boult, Jessica K.R., primary, Robinson, Simon P., primary, Sill, Martin, primary, Dunkel, Ira J., primary, Gilheeney, Stephen W., primary, Rosenblum, Marc K., primary, Hughes, Debbie, primary, Proszek, Paula Z., primary, Macdonald, Tobey J., primary, Preusser, Matthias, primary, Haberler, Christine, primary, Slavc, Irene, primary, Packer, Roger, primary, Ng, Ho-Keung, primary, Caspi, Shani, primary, Popović, Mara, primary, Faganel Kotnik, Barbara, primary, Wood, Matthew D., primary, Baird, Lissa, primary, Davare, Monika Ashok, primary, Solomon, David A., primary, Olsen, Thale Kristin, primary, Brandal, Petter, primary, Farrell, Michael, primary, Cryan, Jane B., primary, Capra, Michael, primary, Karremann, Michael, primary, Schittenhelm, Jens, primary, Schuhmann, Martin U., primary, Ebinger, Martin, primary, Dinjens, Winand N.M., primary, Kerl, Kornelius, primary, Hettmer, Simone, primary, Pietsch, Torsten, primary, Andreiuolo, Felipe, primary, Driever, Pablo Hernáiz, primary, Korshunov, Andrey, primary, Hiddingh, Lotte, primary, Worst, Barbara C., primary, Sturm, Dominik, primary, Zuckermann, Marc, primary, Witt, Olaf, primary, Bloom, Tabitha, primary, Mitchell, Clare, primary, Miele, Evelina, primary, Colafati, Giovanna Stefania, primary, Diomedi-Camassei, Francesca, primary, Bailey, Simon, primary, Moore, Andrew S., primary, Hassall, Timothy E.G., primary, Lowis, Stephen P., primary, Tsoli, Maria, primary, Cowley, Mark J., primary, Ziegler, David S., primary, Karajannis, Matthias A., primary, Aquilina, Kristian, primary, Hargrave, Darren R., primary, Carceller, Fernando, primary, Marshall, Lynley V., primary, von Deimling, Andreas, primary, Kramm, Christof M., primary, Pfister, Stefan M., primary, Sahm, Felix, primary, Baker, Suzanne J., primary, Mastronuzzi, Angela, primary, Carai, Andrea, primary, Vinci, Maria, primary, Capper, David, primary, Popov, Sergey, primary, Ellison, David W., primary, Jacques, Thomas S., primary, Jones, David T.W., primary, and Jones, Chris, primary

Published
2023
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42. Supplementary Table S3 from Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes

Author

Clarke, Matthew, primary, Mackay, Alan, primary, Ismer, Britta, primary, Pickles, Jessica C., primary, Tatevossian, Ruth G., primary, Newman, Scott, primary, Bale, Tejus A., primary, Stoler, Iris, primary, Izquierdo, Elisa, primary, Temelso, Sara, primary, Carvalho, Diana M., primary, Molinari, Valeria, primary, Burford, Anna, primary, Howell, Louise, primary, Virasami, Alex, primary, Fairchild, Amy R., primary, Avery, Aimee, primary, Chalker, Jane, primary, Kristiansen, Mark, primary, Haupfear, Kelly, primary, Dalton, James D., primary, Orisme, Wilda, primary, Wen, Ji, primary, Hubank, Michael, primary, Kurian, Kathreena M., primary, Rowe, Catherine, primary, Maybury, Mellissa, primary, Crosier, Stephen, primary, Knipstein, Jeffrey, primary, Schüller, Ulrich, primary, Kordes, Uwe, primary, Kram, David E., primary, Snuderl, Matija, primary, Bridges, Leslie, primary, Martin, Andrew J., primary, Doey, Lawrence J., primary, Al-Sarraj, Safa, primary, Chandler, Christopher, primary, Zebian, Bassel, primary, Cairns, Claire, primary, Natrajan, Rachael, primary, Boult, Jessica K.R., primary, Robinson, Simon P., primary, Sill, Martin, primary, Dunkel, Ira J., primary, Gilheeney, Stephen W., primary, Rosenblum, Marc K., primary, Hughes, Debbie, primary, Proszek, Paula Z., primary, Macdonald, Tobey J., primary, Preusser, Matthias, primary, Haberler, Christine, primary, Slavc, Irene, primary, Packer, Roger, primary, Ng, Ho-Keung, primary, Caspi, Shani, primary, Popović, Mara, primary, Faganel Kotnik, Barbara, primary, Wood, Matthew D., primary, Baird, Lissa, primary, Davare, Monika Ashok, primary, Solomon, David A., primary, Olsen, Thale Kristin, primary, Brandal, Petter, primary, Farrell, Michael, primary, Cryan, Jane B., primary, Capra, Michael, primary, Karremann, Michael, primary, Schittenhelm, Jens, primary, Schuhmann, Martin U., primary, Ebinger, Martin, primary, Dinjens, Winand N.M., primary, Kerl, Kornelius, primary, Hettmer, Simone, primary, Pietsch, Torsten, primary, Andreiuolo, Felipe, primary, Driever, Pablo Hernáiz, primary, Korshunov, Andrey, primary, Hiddingh, Lotte, primary, Worst, Barbara C., primary, Sturm, Dominik, primary, Zuckermann, Marc, primary, Witt, Olaf, primary, Bloom, Tabitha, primary, Mitchell, Clare, primary, Miele, Evelina, primary, Colafati, Giovanna Stefania, primary, Diomedi-Camassei, Francesca, primary, Bailey, Simon, primary, Moore, Andrew S., primary, Hassall, Timothy E.G., primary, Lowis, Stephen P., primary, Tsoli, Maria, primary, Cowley, Mark J., primary, Ziegler, David S., primary, Karajannis, Matthias A., primary, Aquilina, Kristian, primary, Hargrave, Darren R., primary, Carceller, Fernando, primary, Marshall, Lynley V., primary, von Deimling, Andreas, primary, Kramm, Christof M., primary, Pfister, Stefan M., primary, Sahm, Felix, primary, Baker, Suzanne J., primary, Mastronuzzi, Angela, primary, Carai, Andrea, primary, Vinci, Maria, primary, Capper, David, primary, Popov, Sergey, primary, Ellison, David W., primary, Jacques, Thomas S., primary, Jones, David T.W., primary, and Jones, Chris, primary

Published
2023
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43. Supplementary Data from Cross-Species Genomics Reveals Oncogenic Dependencies in ZFTA/C11orf95 Fusion–Positive Supratentorial Ependymomas

Author

Zheng, Tuyu, primary, Ghasemi, David R., primary, Okonechnikov, Konstantin, primary, Korshunov, Andrey, primary, Sill, Martin, primary, Maass, Kendra K., primary, Benites Goncalves da Silva, Patricia, primary, Ryzhova, Marina, primary, Gojo, Johannes, primary, Stichel, Damian, primary, Arabzade, Amir, primary, Kupp, Robert, primary, Benzel, Julia, primary, Taya, Shinichiro, primary, Adachi, Toma, primary, Shiraishi, Ryo, primary, Gerber, Nicolas U., primary, Sturm, Dominik, primary, Ecker, Jonas, primary, Sievers, Philipp, primary, Selt, Florian, primary, Chapman, Rebecca, primary, Haberler, Christine, primary, Figarella-Branger, Dominique, primary, Reifenberger, Guido, primary, Fleischhack, Gudrun, primary, Rutkowski, Stefan, primary, Donson, Andrew M., primary, Ramaswamy, Vijay, primary, Capper, David, primary, Ellison, David W., primary, Herold-Mende, Christel C., primary, Schüller, Ulrich, primary, Brandner, Sebastian, primary, Driever, Pablo Hernáiz, primary, Kros, Johan M., primary, Snuderl, Matija, primary, Milde, Till, primary, Grundy, Richard G., primary, Hoshino, Mikio, primary, Mack, Stephen C., primary, Gilbertson, Richard J., primary, Jones, David T.W., primary, Kool, Marcel, primary, von Deimling, Andreas, primary, Pfister, Stefan M., primary, Sahm, Felix, primary, Kawauchi, Daisuke, primary, and Pajtler, Kristian W., primary

Published
2023
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44. Glioneuronal tumor with ATRX alteration, kinase fusion and anaplastic features (GTAKA):a molecularly distinct brain tumor type with recurrent NTRK gene fusions

Author

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, Sievers, Philipp, 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

Abstract

Glioneuronal tumors are a heterogenous group of CNS neoplasms that can be challenging to accurately diagnose. Molecular methods are highly useful in classifying these tumors—distinguishing precise classes from their histological mimics and identifying previously unrecognized types of tumors. Using an unsupervised visualization approach of DNA methylation data, we identified a novel group of tumors (n = 20) that formed a cluster separate from all established CNS tumor types. Molecular analyses revealed ATRX alterations (in 16/16 cases by DNA sequencing and/or immunohistochemistry) as well as potentially targetable gene fusions involving receptor tyrosine-kinases (RTK; mostly NTRK1-3) in all of these tumors (16/16; 100%). In addition, copy number profiling showed homozygous deletions of CDKN2A/B in 55% of cases. Histological and immunohistochemical investigations revealed glioneuronal tumors with isomorphic, round and often condensed nuclei, perinuclear clearing, high mitotic activity and microvascular proliferation. Tumors were mainly located supratentorially (84%) and occurred in patients with a median age of 19 years. Survival data were limited (n = 18) but point towards a more aggressive biology as compared to other glioneuronal tumors (median progression-free survival 12.5 months). Given their molecular characteristics in addition to anaplastic features, we suggest the term glioneuronal tumor with ATRX alteration, kinase fusion and anaplastic features (GTAKA) to describe these tumors. In summary, our findings highlight a novel type of glioneuronal tumor driven by different RTK fusions accompanied by recurrent alterations in ATRX and homozygous deletions of CDKN2A/B. Targeted approaches such as NTRK inhibition might represent a therapeutic option for patients suffering from these tumors.

Published
2023

45. Original Research Molecular diagnostics enables detection of actionable targets: the Pediatric Targeted Therapy 2.0 registry

Author

Ecker, Jonas, Selt, Florian, Sturm, Dominik, Sill, Martin, Korshunov, Andrey, Hirsch, Steffen, Capper, David, Dikow, Nicola, Sutter, Christian, Mueller, Carina, Sigaud, Romain, Eggert, Angelika, Simon, Thorsten, Niehues, Tim, von Deimling, Andreas, Pajtler, Kristian W., van Tilburg, Cornelis M., Jones, David T. W., Sahm, Felix, Pfister, Stefan M., Witt, Olaf, Milde, Till, Ecker, Jonas, Selt, Florian, Sturm, Dominik, Sill, Martin, Korshunov, Andrey, Hirsch, Steffen, Capper, David, Dikow, Nicola, Sutter, Christian, Mueller, Carina, Sigaud, Romain, Eggert, Angelika, Simon, Thorsten, Niehues, Tim, von Deimling, Andreas, Pajtler, Kristian W., van Tilburg, Cornelis M., Jones, David T. W., Sahm, Felix, Pfister, Stefan M., Witt, Olaf, and Milde, Till

Abstract

Background: Precision oncology requires diagnostic accuracy and robust detection of actionable alterations. The Pediatric Targeted Therapy (PTT) 2.0 program aims at improving diagnostic accuracy by addition of molecular analyses to the existing histological diagnosis and detection of actionable alterations for relapsed paediatric oncology patients, in cases with limited availability of tumour material.Methods: Paediatric patients diagnosed with relapse or progression of a central nervous system tumour (n = 178), a sarcoma (n = 41) or another solid tumour (n = 44) were included. DNA methylation array, targeted gene panel sequencing on tumour and blood (130 genes), RNA sequencing in selected cases and a pathway-specific immunohistochemistry (IHC) panel were performed using limited formalin-fixed paraffin embedded tissue from any disease episode available. The clinical impact of reported findings was assessed by a serial questionnaire-based follow-up.Results: Integrated molecular diagnostics resulted in refined or changed diagnosis in 117/263 (44%) tumours. Actionable targets were detected in 155/263 (59%) cases. Constitutional DNA variants with clinical relevance were identified in 16/240 (7%) of patients, half of which were previously unknown. Clinical follow-up showed that 26/263 (10%) of patients received mechanism-of-action based treatment matched to the molecular findings.Conclusion: Next-generation diagnostics adds robust and relevant information on diagnosis, actionable alterations and cancer predisposition syndromes even when tissue from the current disease episode is limited. 2022 Elsevier Ltd. All rights reserved.

Published
2023

46. Clinical implementation of integrated molecular-morphologic risk prediction for meningioma

Author

Hielscher, Thomas, Sill, Martin, Sievers, Philipp, Stichel, Damian, Brandner, Sebastian, Jones, David T.W., von Deimling, Andreas, Sahm, Felix, Maas, Sybren L.N., Hielscher, Thomas, Sill, Martin, Sievers, Philipp, Stichel, Damian, Brandner, Sebastian, Jones, David T.W., von Deimling, Andreas, Sahm, Felix, and Maas, Sybren L.N.

Abstract

Risk prediction for meningioma tumors was until recently almost exclusively based on morphological features of the tumor. To improve risk prediction, multiple models have been established that incorporate morphological and molecular features for an integrated risk prediction score. One such model is the integrated molecular-morphologic meningioma integrated score (IntS), which allocates points to the histological grade, epigenetic methylation family and specific copy-number variations. After publication of the IntS, questions arose in the neuropathological community about the practical and clinical implementation of the IntS, specifically regarding the calling of CNVs, the applicability of the newly available version (v12.5) of the brain tumor classifier and the need for incorporation of TERT-promoter and CDKN2A/B status analysis in the IntS calculation. To investigate and validate these questions additional analyses of the discovery (n = 514), retrospective validation (n = 184) and prospective validation (n = 287) cohorts used for IntS discovery and validation were performed. Our findings suggest that any loss over 5% of the chromosomal arm suffices for the calling of a CNV, that input from the v12.5 classifier is as good or better than the dedicated meningioma classifier (v2.4) and that there is most likely no need for additional testing for TERT-promoter mutations and/or homozygous losses of CDKN2A/B when defining the IntS for an individual patient. The findings from this study help facilitate the clinical implementation of IntS-based risk prediction for meningioma patients.

Published
2023

47. Molecular characterisation defines clinically-actionable heterogeneity within Group 4 medulloblastoma and improves disease risk-stratification

Author

Genética, antropología física y fisiología animal, Genetika,antropologia fisikoa eta animalien fisiologia, Goddard, Jack, Castle, Jemma, Southworth, Emily, Fletcher, Anya, Crosier, Stephen, Martín Guerrero, Idoia, García Ariza, Miguel, Navajas Gutiérrez, Aurora, Masliah-Planchon, Julien, Bourdeaut, Franck, Dufour, Christelle, Ayrault, Olivier, Goschzik, Tobias, Pietsch, Torsten, Sill, Martin, Pfister, Stefan M, Rutkowski, Stefan, Richardson, Stacey, Hill, Rebecca M, Williamson, Daniel, Bailey, Simon, Schwalbe, Edward C, Clifford, Steven, Hicks, Debbie, Genética, antropología física y fisiología animal, Genetika,antropologia fisikoa eta animalien fisiologia, Goddard, Jack, Castle, Jemma, Southworth, Emily, Fletcher, Anya, Crosier, Stephen, Martín Guerrero, Idoia, García Ariza, Miguel, Navajas Gutiérrez, Aurora, Masliah-Planchon, Julien, Bourdeaut, Franck, Dufour, Christelle, Ayrault, Olivier, Goschzik, Tobias, Pietsch, Torsten, Sill, Martin, Pfister, Stefan M, Rutkowski, Stefan, Richardson, Stacey, Hill, Rebecca M, Williamson, Daniel, Bailey, Simon, Schwalbe, Edward C, Clifford, Steven, and Hicks, Debbie

Abstract

Group 4 tumours (MBGrp4) represent the majority of non-WNT/non-SHH medulloblastomas. Their clinical course is poorly predicted by current risk-factors. MBGrp4 molecular substructures have been identified (e.g. subgroups/cytogenetics/mutations), however their inter-relationships and potential to improve clinical sub-classification and risk-stratification remain undefined. We comprehensively characterised the paediatric MBGrp4 molecular landscape and determined its utility to improve clinical management. A clinically-annotated discovery cohort (n = 362 MBGrp4) was assembled from UK-CCLG institutions and SIOP-UKCCSG-PNET3, HIT-SIOP-PNET4 and PNET HR + 5 clinical trials. Molecular profiling was undertaken, integrating driver mutations, second-generation non-WNT/non-SHH subgroups (1-8) and whole-chromosome aberrations (WCAs). Survival models were derived for patients ≥ 3 years of age who received contemporary multi-modal therapies (n = 323). We first independently derived and validated a favourable-risk WCA group (WCA-FR) characterised by ≥ 2 features from chromosome 7 gain, 8 loss, and 11 loss. Remaining patients were high-risk (WCA-HR). Subgroups 6 and 7 were enriched for WCA-FR (p < 0·0001) and aneuploidy. Subgroup 8 was defined by predominantly balanced genomes with isolated isochromosome 17q (p < 0·0001). While no mutations were associated with outcome and overall mutational burden was low, WCA-HR harboured recurrent chromatin remodelling mutations (p = 0·007). Integration of methylation and WCA groups improved risk-stratification models and outperformed established prognostication schemes. Our MBGrp4 risk-stratification scheme defines: favourable-risk (non-metastatic disease and (i) subgroup 7 or (ii) WCA-FR (21% of patients, 5-year PFS 97%)), very-high-risk (metastatic disease with WCA-HR (36%, 5-year PFS 49%)) and high-risk (remaining patients; 43%, 5-year PFS 67%). These findings validated in an independent MBGrp4 cohort (n = 668). Importantly, our findings demo

Published
2023

48. Optimizing biomarkers for accurate ependymoma diagnosis, prognostication, and stratification within International Clinical Trials: A BIOMECA study.

Author

Chapman, Rebecca J, Ghasemi, David R, Andreiuolo, Felipe, Zschernack, Valentina, Espariat, Arnault Tauziede, Buttarelli, Francesca R, Giangaspero, Felice, Grill, Jacques, Haberler, Christine, Paine, Simon M L, Scott, Ian, Jacques, Thomas S, Sill, Martin, Pfister, Stefan, Kilday, John-Paul, Leblond, Pierre, Massimino, Maura, Witt, Hendrik, Modena, Piergiorgio, and Varlet, Pascale

Published
2023
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49. Supplemental Material (for publication) File #1 from Large-scale Radiomic Profiling of Recurrent Glioblastoma Identifies an Imaging Predictor for Stratifying Anti-Angiogenic Treatment Response

Author

Kickingereder, Philipp, primary, Götz, Michael, primary, Muschelli, John, primary, Wick, Antje, primary, Neuberger, Ulf, primary, Shinohara, Russell T., primary, Sill, Martin, primary, Nowosielski, Martha, primary, Schlemmer, Heinz-Peter, primary, Radbruch, Alexander, primary, Wick, Wolfgang, primary, Bendszus, Martin, primary, Maier-Hein, Klaus H., primary, and Bonekamp, David, primary

Published
2023
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50. supplemental legend from Large-scale Radiomic Profiling of Recurrent Glioblastoma Identifies an Imaging Predictor for Stratifying Anti-Angiogenic Treatment Response

Author

Kickingereder, Philipp, primary, Götz, Michael, primary, Muschelli, John, primary, Wick, Antje, primary, Neuberger, Ulf, primary, Shinohara, Russell T., primary, Sill, Martin, primary, Nowosielski, Martha, primary, Schlemmer, Heinz-Peter, primary, Radbruch, Alexander, primary, Wick, Wolfgang, primary, Bendszus, Martin, primary, Maier-Hein, Klaus H., primary, and Bonekamp, David, primary

Published
2023
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