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2. A prognostic neural epigenetic signature in high-grade glioma

Author

Drexler, Richard, Khatri, Robin, Sauvigny, Thomas, Mohme, Malte, Maire, Cecile L., Ryba, Alice, Zghaibeh, Yahya, Dührsen, Lasse, Salviano-Silva, Amanda, Lamszus, Katrin, Westphal, Manfred, Gempt, Jens, Wefers, Annika K., Neumann, Julia E., Bode, Helena, Hausmann, Fabian, Huber, Tobias B., Bonn, Stefan, Jütten, Kerstin, Delev, Daniel, Weber, Katharina J., Harter, Patrick N., Onken, Julia, Vajkoczy, Peter, Capper, David, Wiestler, Benedikt, Weller, Michael, Snijder, Berend, Buck, Alicia, Weiss, Tobias, Göller, Pauline C., Sahm, Felix, Menstel, Joelle Aline, Zimmer, David Niklas, Keough, Michael B., Ni, Lijun, Monje, Michelle, Silverbush, Dana, Hovestadt, Volker, Suvà, Mario L., Krishna, Saritha, Hervey-Jumper, Shawn L., Schüller, Ulrich, Heiland, Dieter H., Hänzelmann, Sonja, and Ricklefs, Franz L.

Published
2024
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3. AHRR and SFRP2 in primary versus recurrent high-grade serous ovarian carcinoma and their prognostic implication

Author

Monjé, Nanna, Dragomir, Mihnea P., Sinn, Bruno V., Hoffmann, Inga, Makhmut, Anuar, Simon, Tincy, Kunze, Catarina A., Ihlow, Jana, Schmitt, Wolfgang D., Pohl, Jonathan, Piwonski, Iris, Marchenko, Sofya, Keunecke, Carlotta, Calina, Teodor G., Tiso, Francesca, Kulbe, Hagen, Kreuzinger, Caroline, Cacsire Castillo-Tong, Dan, Sehouli, Jalid, Braicu, Elena I., Denkert, Carsten, Darb-Esfahani, Silvia, Kübler, Kirsten, Capper, David, Coscia, Fabian, Morkel, Markus, Horst, David, Sers, Christine, and Taube, Eliane T.

Published
2024
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6. 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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7. LOGGIC/FIREFLY-2: a phase 3, randomized trial of tovorafenib vs. chemotherapy in pediatric and young adult patients with newly diagnosed low-grade glioma harboring an activating RAF alteration

Author

van Tilburg, Cornelis M., Kilburn, Lindsay B., Perreault, Sébastien, Schmidt, Rene, Azizi, Amedeo A., Cruz-Martínez, Ofelia, Zápotocký, Michal, Scheinemann, Katrin, Meeteren, Antoinette Y. N. Schouten-van, Sehested, Astrid, Opocher, Enrico, Driever, Pablo Hernáiz, Avula, Shivaram, Ziegler, David S., Capper, David, Koch, Arend, Sahm, Felix, Qiu, Jiaheng, Tsao, Li-Pen, Blackman, Samuel C., Manley, Peter, Milde, Till, Witt, Ruth, Jones, David T. W., Hargrave, Darren, and Witt, Olaf

Published
2024
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11. Concurrent gliomas in patients with multiple sclerosis

Author

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

Published
2023
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12. MAPK inhibitor sensitivity scores predict sensitivity driven by the immune infiltration in pediatric low-grade gliomas

Author

Sigaud, Romain, Albert, Thomas K., Hess, Caroline, Hielscher, Thomas, Winkler, Nadine, Kocher, Daniela, Walter, Carolin, Münter, Daniel, Selt, Florian, Usta, Diren, Ecker, Jonas, Brentrup, Angela, Hasselblatt, Martin, Thomas, Christian, Varghese, Julian, Capper, David, Thomale, Ulrich W., Hernáiz Driever, Pablo, Simon, Michèle, Horn, Svea, Herz, Nina Annika, Koch, Arend, Sahm, Felix, Hamelmann, Stefan, Faria-Andrade, Augusto, Jabado, Nada, Schuhmann, Martin U., Schouten-van Meeteren, Antoinette Y. N., Hoving, Eelco, Brummer, Tilman, van Tilburg, Cornelis M., Pfister, Stefan M., Witt, Olaf, Jones, David T. W., Kerl, Kornelius, and Milde, Till

Published
2023
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13. Oligosarcomas, IDH-mutant are distinct and aggressive

Author

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

Subjects
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.

Published
2022

14. Methylation differences in Alzheimer’s disease neuropathologic change in the aged human brain

Author

Lang, Anna-Lena, Eulalio, Tiffany, Fox, Eddie, Yakabi, Koya, Bukhari, Syed A, Kawas, Claudia H, Corrada, Maria M, Montgomery, Stephen B, Heppner, Frank L, Capper, David, Nachun, Daniel, and Montine, Thomas J

Subjects
Biological Sciences, Genetics, Neurodegenerative, Neurosciences, Aging, Alzheimer's Disease, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Brain Disorders, Dementia, Acquired Cognitive Impairment, 2.1 Biological and endogenous factors, Aetiology, Neurological, Aged, 80 and over, Humans, Middle Aged, Aged, Alzheimer Disease, Amyloid beta-Peptides, Neuropathology, Brain, Plaque, Amyloid, DNA Methylation, Methylation, Deconvolution, plus, Old age, Alzheimer's disease, AD, PEN-2, Gamma secretase, Alzheimer’s disease, Biochemistry and Cell Biology, Clinical Sciences, Biochemistry and cell biology
Abstract

Alzheimer's disease (AD) is the most common cause of dementia with advancing age as its strongest risk factor. AD neuropathologic change (ADNC) is known to be associated with numerous DNA methylation changes in the human brain, but the oldest old (> 90 years) have so far been underrepresented in epigenetic studies of ADNC. Our study participants were individuals aged over 90 years (n = 47) from The 90+ Study. We analyzed DNA methylation from bulk samples in eight precisely dissected regions of the human brain: middle frontal gyrus, cingulate gyrus, entorhinal cortex, dentate gyrus, CA1, substantia nigra, locus coeruleus and cerebellar cortex. We deconvolved our bulk data into cell-type-specific (CTS) signals using computational methods. CTS methylation differences were analyzed across different levels of ADNC. The highest amount of ADNC related methylation differences was found in the dentate gyrus, a region that has so far been underrepresented in large scale multi-omic studies. In neurons of the dentate gyrus, DNA methylation significantly differed with increased burden of amyloid beta (Aβ) plaques at 5897 promoter regions of protein-coding genes. Amongst these, higher Aβ plaque burden was associated with promoter hypomethylation of the Presenilin enhancer 2 (PEN-2) gene, one of the rate limiting genes in the formation of gamma-secretase, a multicomponent complex that is responsible in part for the endoproteolytic cleavage of amyloid precursor protein into Aβ peptides. In addition to novel ADNC related DNA methylation changes, we present the most detailed array-based methylation survey of the old aged human brain to date. Our open-sourced dataset can serve as a brain region reference panel for future studies and help advance research in aging and neurodegenerative diseases.

Published
2022

15. Genetic and epigenetic characterization of posterior pituitary tumors

Author

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

Subjects
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.

Published
2021

16. Molecular profiling of pediatric meningiomas shows tumor characteristics distinct from adult meningiomas

Author

Kirches, Elmar, Sahm, Felix, Korshunov, Andrey, Bluecher, Christina, Waldt, Natalie, Kropf, Siegfried, Schrimpf, Daniel, Sievers, Philipp, Stichel, Damian, Schüller, Ulrich, Schittenhelm, Jens, Riemenschneider, Markus J, Karajannis, Matthias A, Perry, Arie, Pietsch, Torsten, Boekhoff, Svenja, Capper, David, Beck, Katja, Paramasivam, Nagarajan, Schlesner, Matthias, Brastianos, Priscilla K, Müller, Hermann L, Pfister, Stefan M, and Mawrin, Christian

Subjects
Cancer, Pediatric, Human Genome, Brain Cancer, Pediatric Research Initiative, Rare Diseases, Brain Disorders, Genetics, Adolescent, Adult, Child, Child, Preschool, Female, Gene Expression Profiling, Humans, Male, Meningeal Neoplasms, Meningioma, Transcriptome, Methylation profile, Targeted sequencing, NF2, Clinical Sciences, Neurosciences, Neurology & Neurosurgery
Abstract

In contrast to adults, meningiomas are uncommon tumors in childhood and adolescence. Whether adult and pediatric meningiomas differ on a molecular level is unclear. Here we report detailed genomic analyses of 37 pediatric meningiomas by sequencing and DNA methylation profiling. Histologically, the series was dominated by meningioma subtypes with aggressive behavior, with 70% of patients suffering from WHO grade II or III meningiomas. The most frequent cytogenetic aberrations were loss of chromosomes 22 (23/37 [62%]), 1 (9/37 [24%]), 18 (7/37 [19%]), and 14 (5/37 [14%]). Tumors with NF2 alterations exhibited overall increased chromosomal instability. Unsupervised clustering of DNA methylation profiles revealed separation into three groups: designated group 1 composed of clear cell and papillary meningiomas, whereas group 2A comprised predominantly atypical meningiomas and group 2B enriched for rare high-grade subtypes (rhabdoid, chordoid). Meningiomas from NF2 patients clustered exclusively within groups 1 and 2A. When compared with a dataset of 105 adult meningiomas, the pediatric meningiomas largely grouped separately. Targeted panel DNA sequencing of 34 tumors revealed frequent NF2 alterations, while other typical alterations found in adult non-NF2 tumors were absent. These data demonstrate that pediatric meningiomas are characterized by molecular features distinct from adult tumors.

Published
2021

17. A prospective observational study of real-world treatment and outcome in secondary CNS lymphoma

Author

Habringer, Stefan, Demel, Uta M., Fietz, Anne-Katrin, Lammer, Felicitas, Schroers, Roland, Hofer, Silvia, Bairey, Osnat, Braess, Jan, Meier-Stiegen, Anna Sofia, Stuhlmann, Reingard, Schmidt-Hieber, Martin, Hoffmann, Johannes, Zinngrebe, Bettina, Kaiser, Ulrich, Reimer, Peter, Möhle, Robert, Fix, Peter, Höffkes, Heinz-Gert, Langenkamp, Ulrich, Büschenfelde, Christian Meyer zum, Hopfer, Olaf, Stoltefuß, Andrea, La Rosée, Paul, Blasberg, Henning, Jordan, Karin, Kaun, Stephan, Meurer, Anna, Unteroberdörster, Meike, von Brünneck, Ann-Christin, Capper, David, Heppner, Frank L., Chapuy, Björn, Janz, Martin, Schwartz, Stefan, Konietschke, Frank, Vajkoczy, Peter, Korfel, Agnieszka, and Keller, Ulrich

Published
2024
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18. 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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20. A Novel Type of IDH-wildtype Glioma Characterized by Gliomatosis Cerebri-like Growth Pattern, TERT Promoter Mutation, and Distinct Epigenetic Profile

Author

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

Published
2023
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21. 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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22. Expanded analysis of high-grade astrocytoma with piloid features identifies an epigenetically and clinically distinct subtype associated with neurofibromatosis type 1

Author

Cimino, Patrick J., Ketchum, Courtney, Turakulov, Rust, Singh, Omkar, Abdullaev, Zied, Giannini, Caterina, Pytel, Peter, Lopez, Giselle Yvette, Colman, Howard, Nasrallah, MacLean P., Santi, Mariarita, Fernandes, Igor Lima, Nirschl, Jeff, Dahiya, Sonika, Neill, Stewart, Solomon, David, Perez, Eilis, Capper, David, Mani, Haresh, Caccamo, Dario, Ball, Matthew, Badruddoja, Michael, Chkheidze, Rati, Camelo-Piragua, Sandra, Fullmer, Joseph, Alexandrescu, Sanda, Yeaney, Gabrielle, Eberhart, Charles, Martinez-Lage, Maria, Chen, Jie, Zach, Leor, Kleinschmidt-DeMasters, B. K., Hefti, Marco, Lopes, Maria-Beatriz, Nuechterlein, Nicholas, Horbinski, Craig, Rodriguez, Fausto J., Quezado, Martha, Pratt, Drew, and Aldape, Kenneth

Published
2023
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23. Molecular and clinicopathologic characteristics of gliomas with EP300::BCOR fusions

Author

Wu, Zhichao, Rajan, Sharika, Chung, Hye-Jung, Raffeld, Mark, Panneer Selvam, Pavalan, Schweizer, Leonille, Perry, Arie, Samuel, David, Giannini, Caterina, Ragunathan, Aditya, Frosch, Matthew P., Marshall, Michael S., Boué, Daniel R., Donev, Kliment, Neill, Stewart G., Fernandes, Igor, Resnick, Adam, Rood, Brian, Cummings, Thomas J., Buckley, Anne F., Szymanski, Linda, Neto, Osorio Lopes Abath, Zach, Leor, Colman, Howard, Cheshier, Samuel, Ziskin, Jennifer, Tyagi, Manoj, Capper, David, Abdullaev, Zied, Cimino, Patrick J., Quezado, Martha, Pratt, Drew, and Aldape, Kenneth

Published
2022
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25. cIMPACT‐NOW update 6: new entity and diagnostic principle recommendations of the cIMPACT‐Utrecht meeting on future CNS tumor classification and grading

Author

Louis, David N, Wesseling, Pieter, Aldape, Kenneth, Brat, Daniel J, Capper, David, Cree, Ian A, Eberhart, Charles, Figarella‐Branger, Dominique, Fouladi, Maryam, Fuller, Gregory N, Giannini, Caterina, Haberler, Christine, Hawkins, Cynthia, Komori, Takashi, Kros, Johan M, Ng, HK, Orr, Brent A, Park, Sung‐Hye, Paulus, Werner, Perry, Arie, Pietsch, Torsten, Reifenberger, Guido, Rosenblum, Marc, Rous, Brian, Sahm, Felix, Sarkar, Chitra, Solomon, David A, Tabori, Uri, Bent, Martin J, Deimling, Andreas, Weller, Michael, White, Valerie A, and Ellison, David W

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Cancer, Rare Diseases, Central Nervous System Neoplasms, Humans, Neoplasm Grading, brain tumors, central nervous system, classification, neoplasms, Clinical Sciences, Neurosciences, Neurology & Neurosurgery, Clinical sciences
Abstract

cIMPACT-NOW (the Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy) was established to evaluate and make practical recommendations on recent advances in the field of CNS tumor classification, particularly in light of the rapid progress in molecular insights into these neoplasms. For Round 2 of its deliberations, cIMPACT-NOW Working Committee 3 was reconstituted and convened in Utrecht, The Netherlands, for a meeting designed to review putative new CNS tumor types in advance of any future World Health Organization meeting on CNS tumor classification. In preparatory activities for the meeting and at the actual meeting, a list of possible entities was assembled and each type and subtype debated. Working Committee 3 recommended that a substantial number of newly recognized types and subtypes should be considered for inclusion in future CNS tumor classifications. In addition, the group endorsed a number of principles-relating to classification categories, approaches to classification, nomenclature, and grading-that the group hopes will also inform the future classification of CNS neoplasms.

Published
2020

26. 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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27. The utility of DNA methylation analysis in elderly patients with pilocytic astrocytoma morphology

Author

Suruga, Yasuki, Satomi, Kaishi, Otani, Yoshihiro, Fujii, Kentaro, Ishida, Joji, Uneda, Atsuhito, Tsuboi, Nobushige, Makino, Keigo, Hirano, Shuichiro, Kemmotsu, Naoya, Imoto, Ryoji, Mizuta, Ryo, Tomita, Yusuke, Yasuhara, Takao, Washio, Kana, Yanai, Hiroyuki, Matsushita, Yuko, Hibiya, Yuko, Yoshida, Akihiko, Capper, David, Ichimura, Koichi, and Date, Isao

Published
2022
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30. The European Network for Sinonasal Cancer Research (EUSICA) – A pan-European initiative targeting a group of orphan tumours

Author

Hermsen, Mario, primary, Bossi, Paolo, additional, Capper, David, additional, Fleming, Jason, additional, Haybaeck, Johannes, additional, Martinez-Balibrea, Eva, additional, Nuyts, Sandra, additional, Skalova, Alena, additional, Thomson, David, additional, Trama, Annalisa, additional, Turri-Zanoni, Mario, additional, Verillaud, Benjamin, additional, Woods, Robbie, additional, von Buchwald, Christian, additional, and Lechner, Matt, additional

Published
2024
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31. cIMPACT-NOW: a practical summary of diagnostic points from Round 1 updates.

Author

Louis, David N, Ellison, David W, Brat, Daniel J, Aldape, Kenneth, Capper, David, Hawkins, Cynthia, Paulus, Werner, Perry, Arie, Reifenberger, Guido, Figarella-Branger, Dominique, von Deimling, Andreas, and Wesseling, Pieter

Subjects
Humans, Central Nervous System Neoplasms, Brain Neoplasms, Neuropathology, Brain Cancer, Brain Disorders, Neurosciences, Rare Diseases, Cancer, Clinical Sciences, Neurology & Neurosurgery
Abstract

cIMPACT-NOW (the Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy) was established to provide a forum to evaluate and recommend proposed changes to future CNS tumor classifications. From 2016 to 2019 (Round 1), cIMPACT published four updates. Update 1 clarified the use of the term NOS (Not Otherwise Specified) and proposed use of the additional term NEC (Not Elsewhere Classified). Update 2 issued clarifications regarding two diagnoses: Diffuse Midline Glioma, H3 K27M-mutant and Diffuse Astrocytoma/Anaplastic Astrocytoma, IDH-mutant. Update 3 proposed molecular criteria that could be used in the setting of an IDH-wildtype diffuse or anaplastic astrocytic glioma without histological features of glioblastoma to infer that the tumor would behave similarly to a grade IV glioblastoma. Update 4 suggested that, in children and young adults, subtypes of IDH-wildtype/H3-wildtype diffuse gliomas may have distinct clinical features in the setting of a BRAFV600E mutation, FGFR1 alteration, other MAPK pathway alteration, or a MYB or MYBL1 rearrangement. The practical diagnostic relevance of these cIMPACT proposals is highlighted in this summary.

Published
2019

34. 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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36. DNA methylation reveals distinct cells of origin for pancreatic neuroendocrine carcinomas and pancreatic neuroendocrine tumors

Author

Simon, Tincy, Riemer, Pamela, Jarosch, Armin, Detjen, Katharina, Di Domenico, Annunziata, Bormann, Felix, Menne, Andrea, Khouja, Slim, Monjé, Nanna, Childs, Liam H., Lenze, Dido, Leser, Ulf, Rossner, Florian, Morkel, Markus, Blüthgen, Nils, Pavel, Marianne, Horst, David, Capper, David, Marinoni, Ilaria, Perren, Aurel, Mamlouk, Soulafa, and Sers, Christine

Published
2022
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38. 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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39. 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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40. Desmoplastic Infantile Ganglioglioma/Astrocytoma (DIG/DIA) Are Distinct Entities with Frequent BRAFV600 Mutations

Author

Wang, Anthony C, Jones, David TW, Abecassis, Isaac Joshua, Cole, Bonnie L, Leary, Sarah ES, Lockwood, Christina M, Chavez, Lukas, Capper, David, Korshunov, Andrey, Fallah, Aria, Wang, Shelly, Ene, Chibawanye, Olson, James M, Geyer, J Russell, Holland, Eric C, Lee, Amy, Ellenbogen, Richard G, and Ojemann, Jeffrey G

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Sciences, Oncology and Carcinogenesis, Cancer, Rare Diseases, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Astrocytoma, Child, Preschool, Female, Ganglioglioma, Humans, Infant, Male, Mutation, Neoplasm Recurrence, Local, Oncogene Proteins, Fusion, Proto-Oncogene Proteins B-raf, Tumor Suppressor Protein p53, Exome Sequencing, X-linked Nuclear Protein, Developmental Biology, Oncology & Carcinogenesis, Biochemistry and cell biology, Oncology and carcinogenesis
Abstract

Desmoplastic infantile ganglioglioma (DIG) and desmoplastic infantile astrocytoma (DIA) are extremely rare tumors that typically arise in infancy; however, these entities have not been well characterized in terms of genetic alterations or clinical outcomes. Here, through a multi-institutional collaboration, the largest cohort of DIG/DIA to date is examined using advanced laboratory and data processing techniques. Targeted DNA exome sequencing and DNA methylation profiling were performed on tumor specimens obtained from different patients (n = 8) diagnosed histologically as DIG/DIGA. Two of these cases clustered with other tumor entities, and were excluded from analysis. The remaining 16 cases were confirmed to be DIG/DIA by histology and by DNA methylation profiling. Somatic BRAF gene mutations were discovered in 7 instances (43.8%); 4 were BRAFV600E mutations, and 3 were BRAFV600D mutations. Three instances of malignant transformation were found, and sequencing of the recurrence demonstrated a new TP53 mutation in one case, new ATRX deletion in one case, and in the third case, the original tumor harbored an EML4-ALK fusion, also present at recurrence. DIG/DIA are distinct pathologic entities that frequently harbor BRAFV600 mutations. Complete surgical resection is the ideal treatment, and overall prognosis is excellent. While, the small sample size and incomplete surgical records limit a definitive conclusion about the risk of tumor recurrence, the risk appears quite low. In rare cases with wild-type BRAF, malignant progression can be observed, frequently with the acquisition of other genetic alterations.Implications: DIG/DIA are a distinct molecular entity, with a subset frequently harboring either BRAF V600E or BRAF V600D mutations. Mol Cancer Res; 16(10); 1491-8. ©2018 AACR.

Published
2018

41. Epithelioid glioblastomas stratify into established diagnostic subsets upon integrated molecular analysis

Author

Korshunov, Andrey, Chavez, Lukas, Sharma, Tanvi, Ryzhova, Marina, Schrimpf, Daniel, Stichel, Damian, Capper, David, Sturm, Dominik, Kool, Marcel, Habel, Antje, Kleinschmidt‐DeMasters, Bette K, Rosenblum, Marc, Absalyamova, Oksana, Golanov, Andrey, Lichter, Peter, Pfister, Stefan M, Jones, David TW, Perry, Arie, and von Deimling, Andreas

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Pediatric, Neurosciences, Genetics, Clinical Research, Brain Cancer, Rare Diseases, Brain Disorders, Cancer, Adolescent, Adult, Aged, Biomarkers, Tumor, Brain Neoplasms, Child, Child, Preschool, Cohort Studies, Computational Biology, DNA Copy Number Variations, Epigenesis, Genetic, Female, Glioblastoma, Humans, Male, Middle Aged, Mutation, Prognosis, Proto-Oncogene Proteins B-raf, Young Adult, cytogenetic prognostic, epithelioid, glioblastoma, methylation, pleomorphic xanthoastrocytoma, subgroup, survival, Clinical Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

Epithelioid glioblastoma (eGBM) is a newly defined and rare GBM variant in the current WHO 2016 classification. BRAF V600E mutation is overrepresented in these tumors and there is known some morphological overlap with anaplastic epithelioid PXA (ePXA). In order to further elucidate this diagnostic category, we molecularly characterized 64 pediatric and adult examples initially diagnosed as "eGBM." Tumors were analyzed using array based methylation and direct sequencing of the BRAF and TERT genes. Our results demonstrated considerable molecular and clinical heterogeneity among eGBM cohort. Methylation patterns, copy number alterations, and mutational analysis data, in combination with clinical findings disclosed three different, well established tumor subtypes: (i) PXA-like tumors with favorable prognosis, predominantly in children and young adults (38), (ii) IDHwt GBM-like tumors with poor prognosis, mainly occurring in older adults, albeit with more frequent BRAF mutations (17), and (iii) RTK1 pediatric GBM-like neoplasms of intermediate prognosis in children and young adults, associated with chromothripsis and frequent PDGFRA amplifications (9). We conclude that the histopathologically defined eGBM do not represent a single diagnostic entity, but rather at least three molecularly and biologically distinct categories. Therefore, additional molecular testing through genome-wide molecular profiling is recommended to further stratify these rare cases.

Published
2018

42. DNA methylation-based classification of central nervous system tumours.

Author

Capper, David, Jones, David TW, Sill, Martin, Hovestadt, Volker, Schrimpf, Daniel, Sturm, Dominik, Koelsche, Christian, Sahm, Felix, Chavez, Lukas, Reuss, David E, Kratz, Annekathrin, Wefers, Annika K, Huang, Kristin, Pajtler, Kristian W, Schweizer, Leonille, Stichel, Damian, Olar, Adriana, Engel, Nils W, Lindenberg, Kerstin, Harter, Patrick N, Braczynski, Anne K, Plate, Karl H, Dohmen, Hildegard, Garvalov, Boyan K, Coras, Roland, Hölsken, Annett, Hewer, Ekkehard, Bewerunge-Hudler, Melanie, Schick, Matthias, Fischer, Roger, Beschorner, Rudi, Schittenhelm, Jens, Staszewski, Ori, Wani, Khalida, Varlet, Pascale, Pages, Melanie, Temming, Petra, Lohmann, Dietmar, Selt, Florian, Witt, Hendrik, Milde, Till, Witt, Olaf, Aronica, Eleonora, Giangaspero, Felice, Rushing, Elisabeth, Scheurlen, Wolfram, Geisenberger, Christoph, Rodriguez, Fausto J, Becker, Albert, Preusser, Matthias, Haberler, Christine, Bjerkvig, Rolf, Cryan, Jane, Farrell, Michael, Deckert, Martina, Hench, Jürgen, Frank, Stephan, Serrano, Jonathan, Kannan, Kasthuri, Tsirigos, Aristotelis, Brück, Wolfgang, Hofer, Silvia, Brehmer, Stefanie, Seiz-Rosenhagen, Marcel, Hänggi, Daniel, Hans, Volkmar, Rozsnoki, Stephanie, Hansford, Jordan R, Kohlhof, Patricia, Kristensen, Bjarne W, Lechner, Matt, Lopes, Beatriz, Mawrin, Christian, Ketter, Ralf, Kulozik, Andreas, Khatib, Ziad, Heppner, Frank, Koch, Arend, Jouvet, Anne, Keohane, Catherine, Mühleisen, Helmut, Mueller, Wolf, Pohl, Ute, Prinz, Marco, Benner, Axel, Zapatka, Marc, Gottardo, Nicholas G, Driever, Pablo Hernáiz, Kramm, Christof M, Müller, Hermann L, Rutkowski, Stefan, von Hoff, Katja, Frühwald, Michael C, Gnekow, Astrid, Fleischhack, Gudrun, Tippelt, Stephan, Calaminus, Gabriele, Monoranu, Camelia-Maria, Perry, Arie, and Jones, Chris

Subjects
Humans, Central Nervous System Neoplasms, Cohort Studies, Reproducibility of Results, DNA Methylation, Adolescent, Adult, Aged, Aged, 80 and over, Middle Aged, Child, Child, Preschool, Infant, Female, Male, Young Adult, Unsupervised Machine Learning, and over, Preschool, General Science & Technology
Abstract

Accurate pathological diagnosis is crucial for optimal management of patients with cancer. For the approximately 100 known tumour types of the central nervous system, standardization of the diagnostic process has been shown to be particularly challenging-with substantial inter-observer variability in the histopathological diagnosis of many tumour types. Here we present a comprehensive approach for the DNA methylation-based classification of central nervous system tumours across all entities and age groups, and demonstrate its application in a routine diagnostic setting. We show that the availability of this method may have a substantial impact on diagnostic precision compared to standard methods, resulting in a change of diagnosis in up to 12% of prospective cases. For broader accessibility, we have designed a free online classifier tool, the use of which does not require any additional onsite data processing. Our results provide a blueprint for the generation of machine-learning-based tumour classifiers across other cancer entities, with the potential to fundamentally transform tumour pathology.

Published
2018

44. The whole-genome landscape of medulloblastoma subtypes

Author

Northcott, Paul A, Buchhalter, Ivo, Morrissy, A Sorana, Hovestadt, Volker, Weischenfeldt, Joachim, Ehrenberger, Tobias, Gröbner, Susanne, Segura-Wang, Maia, Zichner, Thomas, Rudneva, Vasilisa A, Warnatz, Hans-Jörg, Sidiropoulos, Nikos, Phillips, Aaron H, Schumacher, Steven, Kleinheinz, Kortine, Waszak, Sebastian M, Erkek, Serap, Jones, David TW, Worst, Barbara C, Kool, Marcel, Zapatka, Marc, Jäger, Natalie, Chavez, Lukas, Hutter, Barbara, Bieg, Matthias, Paramasivam, Nagarajan, Heinold, Michael, Gu, Zuguang, Ishaque, Naveed, Jäger-Schmidt, Christina, Imbusch, Charles D, Jugold, Alke, Hübschmann, Daniel, Risch, Thomas, Amstislavskiy, Vyacheslav, Gonzalez, Francisco German Rodriguez, Weber, Ursula D, Wolf, Stephan, Robinson, Giles W, Zhou, Xin, Wu, Gang, Finkelstein, David, Liu, Yanling, Cavalli, Florence MG, Luu, Betty, Ramaswamy, Vijay, Wu, Xiaochong, Koster, Jan, Ryzhova, Marina, Cho, Yoon-Jae, Pomeroy, Scott L, Herold-Mende, Christel, Schuhmann, Martin, Ebinger, Martin, Liau, Linda M, Mora, Jaume, McLendon, Roger E, Jabado, Nada, Kumabe, Toshihiro, Chuah, Eric, Ma, Yussanne, Moore, Richard A, Mungall, Andrew J, Mungall, Karen L, Thiessen, Nina, Tse, Kane, Wong, Tina, Jones, Steven JM, Witt, Olaf, Milde, Till, Von Deimling, Andreas, Capper, David, Korshunov, Andrey, Yaspo, Marie-Laure, Kriwacki, Richard, Gajjar, Amar, Zhang, Jinghui, Beroukhim, Rameen, Fraenkel, Ernest, Korbel, Jan O, Brors, Benedikt, Schlesner, Matthias, Eils, Roland, Marra, Marco A, Pfister, Stefan M, Taylor, Michael D, and Lichter, Peter

Subjects
Cancer, Human Genome, Brain Disorders, Pediatric Cancer, Brain Cancer, Genetics, Biotechnology, Rare Diseases, Neurosciences, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Development of treatments and therapeutic interventions, 5.1 Pharmaceuticals, Good Health and Well Being, Carcinogenesis, Carrier Proteins, Cohort Studies, DNA Methylation, DNA Mutational Analysis, Datasets as Topic, Epistasis, Genetic, Genome, Human, Genomics, Humans, Medulloblastoma, Molecular Targeted Therapy, Muscle Proteins, Mutation, Oncogenes, Transcription Factors, Whole Genome Sequencing, Wnt Proteins, General Science & Technology
Abstract

Current therapies for medulloblastoma, a highly malignant childhood brain tumour, impose debilitating effects on the developing child, and highlight the need for molecularly targeted treatments with reduced toxicity. Previous studies have been unable to identify the full spectrum of driver genes and molecular processes that operate in medulloblastoma subgroups. Here we analyse the somatic landscape across 491 sequenced medulloblastoma samples and the molecular heterogeneity among 1,256 epigenetically analysed cases, and identify subgroup-specific driver alterations that include previously undiscovered actionable targets. Driver mutations were confidently assigned to most patients belonging to Group 3 and Group 4 medulloblastoma subgroups, greatly enhancing previous knowledge. New molecular subtypes were differentially enriched for specific driver events, including hotspot in-frame insertions that target KBTBD4 and 'enhancer hijacking' events that activate PRDM6. Thus, the application of integrative genomics to an extensive cohort of clinical samples derived from a single childhood cancer entity revealed a series of cancer genes and biologically relevant subtype diversity that represent attractive therapeutic targets for the treatment of patients with medulloblastoma.

Published
2017

45. TERT promoter mutation and chromosome 6 loss define a high-risk subtype of ependymoma evolving from posterior fossa subependymoma

Author

Thomas, Christian, Thierfelder, Felix, Träger, Malte, Soschinski, Patrick, Müther, Michael, Edelmann, Dominic, Förster, Alexandra, Geiler, Carola, Kim, Hee-yeong, Filipski, Katharina, Harter, Patrick N., Schittenhelm, Jens, Eckert, Franziska, Ntoulias, Georgios, May, Sven-Axel, Stummer, Walter, Onken, Julia, Vajkoczy, Peter, Schüller, Ulrich, Heppner, Frank L., Capper, David, Koch, Arend, Kaul, David, Paulus, Werner, Hasselblatt, Martin, and Schweizer, Leonille

Published
2021
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48. Identification of a putative molecular subtype of adult-type diffuse astrocytoma with recurrent MAPK pathway alterations.

Author

Sievers, Philipp, Bielle, Franck, Göbel, Kirsten, Schrimpf, Daniel, Nichelli, Lucia, Mathon, Bertrand, Appay, Romain, Boldt, Henning B., Dohmen, Hildegard, Selignow, Carmen, Acker, Till, Vicha, Ales, Martinetto, Horacio, Schweizer, Leonille, Schüller, Ulrich, Brandner, Sebastian, Wesseling, Pieter, Schmid, Simone, Capper, David, and Abdullaev, Zied

Subjects
EPIGENOMICS, ASTROCYTOMAS, MITOGEN-activated protein kinases, DNA methylation, CENTRAL nervous system tumors
Abstract

This article discusses the identification of a molecular subtype of adult-type diffuse astrocytoma with recurrent MAPK pathway alterations. Adult-type diffuse gliomas are the most common malignant primary tumors of the central nervous system, and they are classified based on the isocitrate dehydrogenase (IDH1/2) mutation status. Through DNA methylation analysis and next-generation sequencing, a distinct cluster of diffuse gliomas was identified, characterized by high-level amplification of PDGFRA and alterations in the MAPK pathway. These findings suggest potential targeted therapeutic interventions for this newly identified tumor subgroup. Further research is needed to fully understand the clinical implications of this molecular subtype. [Extracted from the article]

Published
2024
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49. An explainable framework for cross-platform DNA methylation-based classification of cancer

Author

Yuan, Dongsheng, primary, Jugas, Robin, additional, Pokorna, Petra, additional, Sterba, Jaroslav, additional, Slaby, Ondrej, additional, Schmid, Simone, additional, Siewert, Christin, additional, Osberg, Brendan, additional, Capper, David, additional, Zeiner, Pia, additional, Weber, Katharina, additional, Harter, Patrick, additional, Jabareen, Nabil, additional, Mackowiak, Sebastian, additional, Ishaque, Naveed, additional, Eils, Roland, additional, Lukassen, Soeren, additional, and Euskirchen, Philipp, additional

Published
2024
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