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Dissecting the genomic complexity underlying medulloblastoma
Open accessAbstract
Medulloblastoma is the most common brain tumour in children; using whole-genome sequencing of tumour samples the authors show that the clinically challenging Group 3 and 4 tumours can be tetraploid, and reveal the expression of the first medulloblastoma fusion genes identified. Medulloblastoma is the most common malignant brain tumour in children. Four papers published in the 2 August 2012 issue of Nature use whole-genome and other sequencing techniques to produce a detailed picture of the genetics and genomics of this condition. Notable findings include the identification of recurrent mutations in genes not previously implicated in medulloblastoma, with significant genetic differences associated with the four biologically distinct subgroups and clinical outcomes in each. Potential avenues for therapy are suggested by the identification of targetable somatic copy-number alterations, including recurrent events targeting TGFβ signalling in Group 3, and NF-κB signalling in Group 4 medulloblastomas. Medulloblastoma is an aggressively growing tumour, arising in the cerebellum or medulla/brain stem. It is the most common malignant brain tumour in children, and shows tremendous biological and clinical heterogeneity1. Despite recent treatment advances, approximately 40% of children experience tumour recurrence, and 30% will die from their disease. Those who survive often have a significantly reduced quality of life. Four tumour subgroups with distinct clinical, biological and genetic profiles are currently identified2,3. WNT tumours, showing activated wingless pathway signalling, carry a favourable prognosis under current treatment regimens4. SHH tumours show hedgehog pathway activation, and have an intermediate prognosis2. Group 3 and 4 tumours are molecularly less well characterized, and also present the greatest clinical challenges2,3,5. The full repertoire of genetic events driving this distinction, however, remains unclear. Here we describe an integrative deep-sequencing analysis of 125 tumour–normal pairs, conducted as part of the International Cancer Genome Consortium (ICGC) PedBrain Tumor Project. Tetraploidy was identified as a frequent early event in Group 3 and 4 tumours, and a positive correlation between patient age and mutation rate was observed. Several recurrent mutations were identified, both in known medulloblastoma-related genes (CTNNB1, PTCH1, MLL2, SMARCA4) and in genes not previously linked to this tumour (DDX3X, CTDNEP1, KDM6A, TBR1), often in subgroup-specific patterns. RNA sequencing confirmed these alterations, and revealed the expression of what are, to our knowledge, the first medulloblastoma fusion genes identified. Chromatin modifiers were frequently altered across all subgroups. These findings enhance our understanding of the genomic complexity and heterogeneity underlying medulloblastoma, and provide several potential targets for new therapeutics, especially for Group 3 and 4 patients.
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Cites
The 2007 WHO Classification of Tumours of the Central Nervous System
Louis, D. N., Ohgaki, H., Wiestler, O. D., Cavenee, W. K., Burger, P. C., Jouvet, A., Scheithauer, B. W., & Kleihues, P. (2007) · Acta Neuropathologica · doi:10.1007/s00401-007-0243-4 · Cited by 15,656
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma
Schwartzentruber, J., Korshunov, A., Liu, X.-Y., Jones, D. T. W., Pfaff, E., Jacob, K., Sturm, D., Fontebasso, A. M., Quang, D.-A. K., Tönjes, M., et al. (2012) · Nature · doi:10.1038/nature10833 · Cited by 2,631
Self-citationThe Mutational Landscape of Head and Neck Squamous Cell Carcinoma
Stransky, N., Egloff, A. M., Tward, A. D., Kostic, A. D., Cibulskis, K., Sivachenko, A., Kryukov, G. V., Lawrence, M. S., Sougnez, C. L., McKenna, A., et al. (2011) · Science · doi:10.1126/science.1208130 · Cited by 2,541
Self-citationMassive genomic rearrangement acquired in a single catastrophic event during cancer development
Stephens, P. J., Greenman, C. D., Fu, B., Yang, F., Bignell, G. R., Mudie, L. J., Pleasance, E. D., Lau, K. W., Beare, D., Stebbings, L. A., et al. (2011) · Cell · doi:10.1016/j.cell.2010.11.055 · Cited by 2,414
Molecular subgroups of medulloblastoma: the current consensus
Taylor, M. D., Northcott, P. A., Korshunov, A., Remke, M., Cho, Y.-J., Clifford, S. C., Eberhart, C. G., Parsons, D. W., Rutkowski, S., Gajjar, A., et al. (2012) · Acta Neuropathologica · doi:10.1007/s00401-011-0922-z · Cited by 1,936
Self-citationMedulloblastoma Comprises Four Distinct Molecular Variants
Northcott, P. A., Korshunov, A., Witt, H., Hielscher, T., Eberhart, C. G., Mack, S. C., Bouffet, É., Clifford, S. C., Hawkins, C. E., French, P. J., et al. (2010) · Journal of Clinical Oncology · doi:10.1200/jco.2009.27.4324 · Cited by 1,353
Self-citationEnglund, C., Fink, A., Lau, C., Pham, D., Daza, R. A. M., Bulfone, A., Kowalczyk, T., & Hevner, R. F. (2005) · The Journal of Neuroscience · doi:10.1523/jneurosci.2899-04.2005 · Cited by 1,261
SF3B1 and Other Novel Cancer Genes in Chronic Lymphocytic Leukemia
Wang, L., Lawrence, M. S., Wan, Y., Stojanov, P., Sougnez, C. L., Stevenson, K. E., Werner, L. L., Sivachenko, A., DeLuca, D. S., Zhang, L., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1109016 · Cited by 1,103
Self-citationKool, M., Korshunov, A., Remke, M., Jones, D., Schlanstein, M., Northcott, P. A., Cho, Y., Köster, J., Meeteren, A. Y. N. S., van Vuurden, D. G., et al. (2012) · Acta Neuropathologica · doi:10.1007/s00401-012-0958-8 · Cited by 1,057
Self-citationRausch, T., Jones, D. T. W., Zapatka, M., Stütz, A. M., Zichner, T., Weischenfeldt, J., Jäger, N., Remke, M., Shih, D., Northcott, P. A., et al. (2012) · Cell · doi:10.1016/j.cell.2011.12.013 · Cited by 865
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Schoenborn, J. R., Nelson, P., & Fang, M. (2013) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-12-3606 · Cited by 86
Ramkissoon, S. H., Bandopadhayay, P., Hwang, J., Ramkissoon, L. A., Greenwald, N. F., Schumacher, S. E., O’Rourke, R., Pinches, N., Ho, P., Malkin, H., et al. (2016) · Neuro-Oncology · doi:10.1093/neuonc/now294 · Cited by 80
Menyhárt, O., & Győrffy, B. (2020) · Cancer and Metastasis Reviews · doi:10.1007/s10555-020-09854-1 · Cited by 91
Hofman, D. A., Ruiz‐Orera, J., Yannuzzi, I., Murugesan, R. A., Brown, A., Clauser, K. R., Condurat, A. L., van Dinter, J. T., Engels, S. A. G., Goodale, A. B., et al. (2024) · Molecular Cell · doi:10.1016/j.molcel.2023.12.003 · Cited by 86
Northcott, P. A., Pfister, S. M., & Jones, D. (2015) · The Lancet Oncology · doi:10.1016/s1470-2045(14)71206-9 · Cited by 80
Self-citationEpigenetic Drivers in Pediatric Medulloblastoma
Roussel, M. F., & Stripay, J. L. (2017) · The Cerebellum · doi:10.1007/s12311-017-0899-9 · Cited by 76
Huang, M., Tailor, J. K., Zhen, Q., Gillmor, A. H., Miller, M. L., Weishaupt, H., Chen, J., Zheng, T., Nash, E. K., McHenry, L. K., et al. (2019) · Cell stem cell · doi:10.1016/j.stem.2019.05.013 · Cited by 75
Self-citationIntergenerational epigenetic inheritance of cancer susceptibility in mammals
Lesch, B. J., Tóthová, Z., Morgan, E. A., Liao, Z., Bronson, R. T., Ebert, B. L., & Page, D. C. (2019) · eLife · doi:10.7554/elife.39380 · Cited by 76
Deconstructing Sonic Hedgehog Medulloblastoma: Molecular Subtypes, Drivers, and Beyond
García-López, J., Kumar, R., Smith, K. S., & Northcott, P. A. (2020) · Trends in Genetics · doi:10.1016/j.tig.2020.11.001 · Cited by 78
Self-citationFisher, M. J., Jones, D., Li, Y., Guo, X., Sonawane, P., Waanders, A. J., Phillips, J. J., Weiss, W. A., Resnick, A. C., Gosline, S. J. C., et al. (2021) · Acta Neuropathologica · doi:10.1007/s00401-021-02276-5 · Cited by 75
Self-citationThe three-dimensional cancer genome
Corces, M. R., & Corces, V. G. (2016) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2016.01.002 · Cited by 77
An update on the central nervous system manifestations of Li–Fraumeni syndrome
Orr, B. A., Clay, M. R., Pinto, E. M., & Kesserwan, C. A. (2019) · Acta Neuropathologica · doi:10.1007/s00401-019-02055-3 · Cited by 80
Medulloblastoma genomics in the modern molecular era
Kumar, R., Liu, A. P. Y., & Northcott, P. A. (2019) · Brain Pathology · doi:10.1111/bpa.12804 · Cited by 72
Self-citationDhar, S. S., & Lee, M. G. (2021) · Oncotarget · doi:10.18632/oncotarget.27988 · Cited by 73
Cheng, F., Liu, C., Lin, C.-C., Zhao, J., Jia, P., Li, W., & Zhao, Z. (2015) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1004497 · Cited by 73
Protein Domain-Level Landscape of Cancer-Type-Specific Somatic Mutations
Yang, F., Petsalaki, E., Rolland, T., HILL, D. E., Vidal, M., & Roth, F. P. (2015) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1004147 · Cited by 71
Targeting Histone Methylation in Cancer
McCabe, M. T., Mohammad, H. P., Barbash, O., & Kruger, R. G. (2017) · The Cancer Journal · doi:10.1097/ppo.0000000000000283 · Cited by 76
Self-citationKumar, R., Liu, A. P. Y., Orr, B. A., Northcott, P. A., & Robinson, G. W. (2018) · Cancer · doi:10.1002/cncr.31583 · Cited by 73
Self-citationPediatric low-grade gliomas: How modern biology reshapes the clinical field
Bergthold, G., Bandopadhayay, P., Bi, W. L., Ramkissoon, L. A., Stiles, C. D., Segal, R. A., Beroukhim, R., Ligon, K. L., Grill, J., & Kieran, M. W. (2014) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2014.02.004 · Cited by 74
DDX3X Suppresses the Susceptibility of Hindbrain Lineages to Medulloblastoma
Patmore, D. M., Jassim, A., Nathan, E., Gilbertson, R. J., Tahan, D., Hoffmann, N., Tong, Y., Smith, K. S., Kanneganti, T., Suzuki, H., et al. (2020) · Developmental Cell · doi:10.1016/j.devcel.2020.05.027 · Cited by 71
Self-citationRhabdomyosarcomas in children with neurofibromatosis type I: A national historical cohort
Crucis, A., Richer, W., Brugières, L., Bergeron, C., Marie‐Cardine, A., Stephan, J., Girard, P., Corradini, N., Münzer, M., Lacour, B., et al. (2015) · Pediatric Blood & Cancer · doi:10.1002/pbc.25556 · Cited by 71
Genomic and transcriptomic analyses match medulloblastoma mouse models to their human counterparts
Pöschl, J., Stark, S., Neumann, P., Gröbner, S. N., Kawauchi, D., Jones, D., Northcott, P. A., Lichter, P., Pfister, S. M., Kool, M., et al. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1297-8 · Cited by 75
Self-citationFamilial rhabdoid tumour 'avant la lettre'—from pathology review to exome sequencing and back again
Witkowski, L., Lalonde, E., Zhang, J., Albrecht, S., Hamel, N., Cavallone, L., May, S. T., Nicholson, J. C., Coleman, N., Murray, M. J., et al. (2013) · The Journal of Pathology · doi:10.1002/path.4225 · Cited by 70
Self-citationExomic Sequencing of Four Rare Central Nervous System Tumor Types
Bettegowda, C., Agrawal, N., Jiao, Y., Wang, Y., Wood, L. D., Rodríguez, F. J., Hruban, R. H., Gallia, G. L., Binder, Z. A., Riggins, C. J., et al. (2013) · Oncotarget · doi:10.18632/oncotarget.964 · Cited by 69
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Maitituoheti, M., Keung, E. Z.-Y., Tang, M., Liang, Y., Alam, H., Han, G., Singh, A. K., Raman, A. T., Terranova, C. J., Sarkar, S., et al. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.108293 · Cited by 71
Molecular Classification of Medulloblastoma
Kijima, N., & Kanemura, Y. (2016) · Neurologia medico-chirurgica · doi:10.2176/nmc.ra.2016-0016 · Cited by 69
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Kasaian, K., Wiseman, S. M., Thiessen, N., Mungall, K., Corbett, R., Qian, J. Q., Nip, K. M., He, A., Tse, K., Chuah, E., et al. (2013) · The Journal of Pathology · doi:10.1002/path.4203 · Cited by 69
Gupta, S., Chaudhary, K., Kumar, R., Gautam, A., Nanda, J. S., Dhanda, S. K., Brahmachari, S. K., & Raghava, G. P. S. (2016) · Scientific Reports · doi:10.1038/srep23857 · Cited by 68
Castelo‐Branco, P., Leao, R. R. N., Lipman, T., Campbell, B. B., Lee, D., Price, A. J., Zhang, C., Heidari, A., Stephens, D., Boerno, S. T., et al. (2016) · Oncotarget · doi:10.18632/oncotarget.10639 · Cited by 68
Boulay, G., Awad, M. E., Riggi, N., Archer, T. C., Iyer, S., Boonseng, W. E., Rossetti, N. E., Naigles, B., Rengarajan, S., Volorio, A., et al. (2017) · Cancer Discovery · doi:10.1158/2159-8290.cd-16-0844 · Cited by 67
Self-citationGermline GPR161 Mutations Predispose to Pediatric Medulloblastoma
Begemann, M., Waszak, S. M., Robinson, G. W., Jäger, N., Sharma, T., Knopp, C., Kraft, F., Moser, O., Mynarek, M., Guerrini‐Rousseau, L., et al. (2019) · Journal of Clinical Oncology · doi:10.1200/jco.19.00577 · Cited by 68
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Hübschmann, D., Jopp‐Saile, L., Andresen, C., Krämer, S., Gu, Z., Heilig, C. E., Kreutzfeldt, S., Teleanu, V., Fröhling, S., Eils, R., et al. (2020) · Genes Chromosomes and Cancer · doi:10.1002/gcc.22918 · Cited by 67
Self-citationClinical implications of medulloblastoma subgroups: incidence of CSF diversion surgery
Schneider, C., Ramaswamy, V., Kulkarni, A. V., Rutka, J. T., Remke, M., Tabori, U. Y., Hawkins, C. E., Bouffet, É., & Taylor, M. D. (2014) · Journal of Neurosurgery Pediatrics · doi:10.3171/2014.9.peds14280 · Cited by 67
Self-citationKordes, M., Röring, M., Heining, C., Braun, S. L., Hutter, B., Richter, D., Geörg, C., Scholl, C., Gröschel, S., Roth, W., et al. (2015) · Leukemia · doi:10.1038/leu.2015.319 · Cited by 70
Self-citationTargeting human SET1/MLL family of proteins
Vedadi, M., Blazer, L. L., Eram, M. S., Baršytė-Lovejoy, D., Arrowsmith, C. H., & Hajian, T. (2017) · Protein Science · doi:10.1002/pro.3129 · Cited by 68
Molecular mechanisms and therapeutic targets in pediatric brain tumors
Liu, K.-W., Pajtler, K. W., Worst, B. C., Pfister, S. M., & Wechsler‐Reya, R. J. (2017) · Science Signaling · doi:10.1126/scisignal.aaf7593 · Cited by 67
Self-citationGuerrini‐Rousseau, L., Dufour, C., Varlet, P., Masliah‐Planchon, J., Bourdeaut, F., Guillaud-Bataille, M., Abbas, R., Bertozzi, A., Fouyssac, F., Huybrechts, S., et al. (2017) · Neuro-Oncology · doi:10.1093/neuonc/nox228 · Cited by 67
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Remke, M., Ramaswamy, V., & Taylor, M. D. (2013) · Current Opinion in Oncology · doi:10.1097/cco.0000000000000008 · Cited by 70
Self-citationBRAF inhibitor–associated ERK activation drives development of chronic lymphocytic leukemia
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Self-citationNovel MYC-driven medulloblastoma models from multiple embryonic cerebellar cells
Kawauchi, D., Ogg, R. J., Liu, L.-T., Shih, D. J. H., Finkelstein, D., Murphy, B. L., Rehg, J. E., Korshunov, A., Calabrese, C. R., Zindy, F., et al. (2017) · Oncogene · doi:10.1038/onc.2017.110 · Cited by 65
Self-citationChapeau, E. A., Gembarska, A., Durand, E. Y., Mandon, E., Estadieu, C., Romanet, V., Wiesmann, M., Tiedt, R., Lehar, J., de Weck, A., et al. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1620262114 · Cited by 64
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Czink, E., Kloor, M., Goeppert, B. F., Fröhling, S., Uhrig, S., Weber, T. F., Meinel, J., Sutter, C., Weiss, K. H., Schirmacher, P., et al. (2017) · Molecular Case Studies · doi:10.1101/mcs.a001974 · Cited by 65
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An, Ö., Pendino, V., D’Antonio, M., Ratti, E., Gentilini, M., & Ciccarelli, F. D. (2014) · Database · doi:10.1093/database/bau015 · Cited by 63
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Radford, E. J., Tan, H.-K., Andersson, M. H. L., Stephenson, J. D., Gardner, E. J., Ironfield, H., Waters, A. J., Gitterman, D. P., Lindsay, S., Abascal, F., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-43041-4 · Cited by 63
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Xiao, H., Bid, H. K., Jou, D., Wu, X., Yu, W., Li, C., Houghton, P. J., & Lin, J. (2014) · Journal of Biological Chemistry · doi:10.1074/jbc.m114.616748 · Cited by 64
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Wu, Q., Madany, P., Akech, J., Dobson, J. R., Douthwright, S., Browne, G., Colby, J. L., Winter, G. E., Bradner, J. E., Pratap, J., et al. (2015) · Journal of Cellular Physiology · doi:10.1002/jcp.24991 · Cited by 63
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Liu, R., Shi, P., Wang, Z., Yuan, C., & Cui, H. (2021) · Frontiers in Oncology · doi:10.3389/fonc.2020.625332 · Cited by 67
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Vaughan, L. S., Clarke, P. A., Barker, K. T., Chanthery, Y. H., Gustafson, C., Tucker, E. R., Renshaw, J., Raynaud, F. I., Li, X., Burke, R., et al. (2016) · Oncotarget · doi:10.18632/oncotarget.10544 · Cited by 65
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Chiang, J., & Ellison, D. W. (2016) · The Journal of Pathology · doi:10.1002/path.4813 · Cited by 63
Shimada, I. S., Hwang, S.-H., Somatilaka, B. N., Wang, X., Skowron, P., Kim, J., Kim, M., Shelton, J. M., Rajaram, V., Xuan, Z., et al. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.01.018 · Cited by 52
Self-citationMöhrmann, L., Werner, M., Oleś, M., Möck, A., Uhrig, S., Jahn, A., Kreutzfeldt, S., Fröhlich, M., Hutter, B., Paramasivam, N., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-31866-4 · Cited by 63
Self-citationPerera‐Bel, J., Hutter, B., Heining, C., Bleckmann, A., Fröhlich, M., Fröhling, S., Glimm, H., Brors, B., & Beißbarth, T. (2018) · Genome Medicine · doi:10.1186/s13073-018-0529-2 · Cited by 60
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Self-citationKhatua, S., Song, A., Sridhar, D. C., & Mack, S. C. (2018) · Current Neuropharmacology · doi:10.2174/1570159x15666171129111324 · Cited by 59
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Faria, C., Golbourn, B., Dubuc, A., Remke, M., Diaz, R., Agnihotri, S., Luck, A. J., Sabha, N., Olsen, S., Wu, X.-C., et al. (2015) · Cancer Research · doi:10.1158/0008-5472.can-13-3629 · Cited by 52
Self-citationZhang, J., Li, N., Fu, J., & Zhou, W. (2020) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2020.109887 · Cited by 56
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Ibragimova, I., Maradeo, M. E., Dulaimi, E., & Cairns, P. (2013) · Epigenetics · doi:10.4161/epi.24552 · Cited by 56
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Self-citationHoye, M. L., Calviello, L., Poff, A., Ejimogu, E., Newman, C. R., Montgomery, M. D., Ou, J., Floor, S. N., & Silver, D. L. (2022) · eLife · doi:10.7554/elife.78203 · Cited by 55
Neumann, J. E., Wefers, A. K., Lambo, S., Bianchi, E., Bockstaller, M., Dorostkar, M. M., Meister, V., Schindler, P., Korshunov, A., von Hoff, K., et al. (2017) · Nature Medicine · doi:10.1038/nm.4402 · Cited by 55
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Martirosian, V., Deshpande, K., Zhou, H., Shen, K., Smith, K. S., Northcott, P. A., Lin, M. P., Stepanosyan, V., Das, D., Remšík, J., et al. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.109302 · Cited by 55
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Gospodinov, A. G., & Herceg, Z. (2013) · DNA repair · doi:10.1016/j.dnarep.2013.07.006 · Cited by 56
Goschzik, T., Mühlen, A. Z., Kristiansen, G., Haberler, C., Stefanits, H., Friedrich, C., von Hoff, K., Rutkowski, S., Pfister, S. M., & Pietsch, T. (2014) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12161 · Cited by 53
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Self-citationNör, C., Sassi, F. A., de Farias, C. B., Schwartsmann, G., Abujamra, A. L., Lenz, G., Brunetto, A. L., & Roesler, R. (2013) · Molecular Neurobiology · doi:10.1007/s12035-013-8441-7 · Cited by 52
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Self-citationShi, X., Wang, Q., Gu, J., Xuan, Z., & Wu, J. I. (2016) · Oncogene · doi:10.1038/onc.2016.108 · Cited by 50
Self-citationNicola, P. A., Blackburn, P. R., Rasmussen, K. J., Bertsch, N. L., Klee, E. W., Hasadsri, L., Pichurin, P. N., Rankin, J., Raymond, F. L., Study, D., et al. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61061 · Cited by 50
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Hussain, I., Eloy, J. A., Carmel, P. W., & Liu, J. K. (2013) · Journal of neurosurgery · doi:10.3171/2013.3.jns122214 · Cited by 51
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Robert, F., & Pelletier, J. (2013) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.1163 · Cited by 51
Hezaveh, K., Kloetgen, A., Bernhart, S. H., Mahapatra, K. D., Lenze, D., Richter, J., Haake, A., Bergmann, A. K., Brors, B., Burkhardt, B., et al. (2016) · Haematologica · doi:10.3324/haematol.2016.143891 · Cited by 51
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Hoffman, L. M., Fouladi, M., Olson, J. M., Daryani, V. M., Stewart, C. F., Wetmore, C., Koçak, M., Onar‐Thomas, A., Wagner, L. M., Gururangan, S., et al. (2015) · Child s Nervous System · doi:10.1007/s00381-015-2725-3 · Cited by 49
Shinsky, S. A., Hu, M., Vought, V. E., Ng, S. B. H., Bamshad, M. J., Shendure, J., & Cosgrove, M. S. (2014) · Journal of Molecular Biology · doi:10.1016/j.jmb.2014.03.011 · Cited by 49
Bunt, J., Hasselt, N. E., Zwijnenburg, D. A., Köster, J., Versteeg, R., & Kool, M. (2012) · Acta Neuropathologica · doi:10.1007/s00401-012-1069-2 · Cited by 49
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Laneve, P., Pò, A., Favia, A., Legnini, I., Alfano, V., Rea, J. N., Carlo, V. D., Bevilacqua, V., Miele, E., Mastronuzzi, A., et al. (2017) · Oncotarget · doi:10.18632/oncotarget.16049 · Cited by 47
Mater, D. V., Gururangan, S., Becher, O. J., Campagne, O., Leary, S. E. S., Phillips, J. J., Huang, J., Lin, T., Poussaint, T. Y., Goldman, S., et al. (2021) · Pediatric Blood & Cancer · doi:10.1002/pbc.28879 · Cited by 51
Schmitt, K., Molfenter, B., Laureano, N. K., Tawk, B., Bieg, M., Hostench, X. P., Weichenhan, D., Ullrich, N. D., Shang, V., Richter, D., et al. (2019) · International Journal of Cancer · doi:10.1002/ijc.32481 · Cited by 48
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Pérez, E., & Capper, D. (2020) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12598 · Cited by 51
Metadata
- Authors
- Jones, D. T. W., Jäger, N., Kool, M., Zichner, T., Hutter, B., Sultan, M., Cho, Y.-J., Pugh, T. J., Hovestadt, V., Stütz, A. M., Rausch, T., Warnatz, H.-J., Ryzhova, M., Bender, S., Sturm, D., Pleier, S., Cin, H., Pfaff, E., Sieber, L., Wittmann, A., Remke, M., Witt, H., Hutter, S., Tzaridis, T., Weischenfeldt, J., Raeder, B., Avci, M., Amstislavskiy, V., Zapatka, M., Weber, U. D., Wang, Q., Lasitschka, B., Bartholomae, C. C., Schmidt, M., von Kalle, C., Ast, V., Lawerenz, C., Eils, J., Kabbe, R., Benes, V., van Sluis, P., Koster, J., Volckmann, R., Shih, D., Betts, M. J., Russell, R. B., Coco, S., Paolo Tonini, G., Schüller, U., Hans, V., Graf, N., Kim, Y.-J., Monoranu, C., Roggendorf, W., Unterberg, A., Herold-Mende, C., Milde, T., Kulozik, A. E., von Deimling, A., Witt, O., Maass, E., Rössler, J., Ebinger, M., Schuhmann, M. U., Frühwald, M. C., Hasselblatt, M., Jabado, N., Rutkowski, S., von Bueren, A. O., Williamson, D., Clifford, S. C., McCabe, M. G., Peter Collins, V., Wolf, S., Wiemann, S., Lehrach, H., Brors, B., Scheurlen, W., Felsberg, J., Reifenberger, G., Northcott, P. A., Taylor, M. D., Meyerson, M., Pomeroy, S. L., Yaspo, M.-L., Korbel, J. O., Korshunov, A., Eils, R., Pfister, S. M., & Lichter, P.
- Affiliations
- German Cancer Research Center (DE)
- European Molecular Biology Laboratory (DE)
- Max Planck Institute for Molecular Genetics (DE)
- Stanford University (US)
- Broad Institute (US)
- Burdenko Neurosurgery Institute (RU)
- Amsterdam UMC Location University of Amsterdam (NL)
- Hospital for Sick Children (CA)
- Heidelberg University (DE)
- Ospedale Policlinico San Martino (IT)
- Institut für Neuropathologie (DE)
- Evangelisches Krankenhaus Bielefeld (DE)
- Universitätsklinikum des Saarlandes (DE)
- University of Würzburg (DE)
- University Hospital Heidelberg (DE)
- Olgahospital (DE)
- University Medical Center Freiburg (DE)
- University Children's Hospital Tübingen (DE)
- University Hospital Münster (DE)
- McGill University Health Centre (CA)
- University Medical Center Hamburg-Eppendorf (DE)
- Royal Victoria Infirmary (GB)
- University of Cambridge (GB)
- Cnopf´sche Kinderklinik (DE)
- Heinrich Heine University Düsseldorf (DE)
- Corresponding author
- Eils, Roland
- Pfister, Stefan M.
- Lichter, Peter
- ORCID
- Jones, David T. W.
- Jäger, Natalie
- Kool, Marcel
- Zichner, Thomas
- Hutter, Barbara
- Sultan, Marc
- Cho, Yoon-Jae
- Pugh, Trevor J.
- Hovestadt, Volker
- Stütz, Adrian M.
- Rausch, Tobias
- Warnatz, Hans-Jörg
- Ryzhova, Marina
- Sturm, Dominik
- Pfaff, Elke
- Remke, Marc
- Witt, Hendrik
- Hutter, Sonja
- Tzaridis, Theophilos
- Weischenfeldt, Joachim
- Raeder, Benjamin
- Amstislavskiy, Vyacheslav
- Zapatka, Marc
- Wang, Qi
- Schmidt, Manfred
- Ast, Volker
- Kabbe, Rolf
- Volckmann, Richard
- Shih, David
- Betts, Matthew J.
- Russell, Robert B.
- Coco, Simona
- Schüller, Ulrich
- Graf, Norbert
- Kim, Yoo-Jin
- Unterberg, Andreas
- Milde, Till
- Kulozik, Andreas E.
- Witt, Olaf
- Rössler, Jochen
- Ebinger, Martin
- Schuhmann, Martin U.
- Frühwald, Michael C.
- Hasselblatt, Martin
- Jabado, Nada
- Rutkowski, Stefan
- Clifford, Steven C.
- McCabe, Martin G.
- Wiemann, Stefan
- Brors, Benedikt
- Felsberg, Jörg
- Reifenberger, Guido
- Northcott, Paul A.
- Taylor, Michael D.
- Meyerson, Matthew
- Pomeroy, Scott L.
- Yaspo, Marie-Laure
- Korbel, Jan O.
- Korshunov, Andrey
- Eils, Roland
- Pfister, Stefan M.
- Lichter, Peter
- Venue
- Nature
- Published
- 2012-07-25
- Volume
- 488
- Issue
- 7409
- Pages
- 100-105
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC3662966
- OpenAlex
- W2167532631
- Cited by
- 839
- References
- 27
- Citations by year
- 2026: 8 · 2025: 31 · 2024: 28 · 2023: 41 · 2022: 42 · 2021: 60 · 2020: 51 · 2019: 49 · 2018: 69 · 2017: 73 · 2016: 86 · 2015: 81 · 2014: 89 · 2013: 102 · 2012: 28
- FWCI
- 45.68
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Nature (publishedVersion, cc-by-nc-sa)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion, cc-by)
- OPUS (Augsburg University) (submittedVersion, cc-by-nc-sa)
- Newcastle University ePrints (Newcastle Univesity)
- Funders
- Pediatric Brain Tumor Foundation
- Deutsches Krebsforschungszentrum
- Children's Cancer and Leukaemia Group
- Cancer Research UK (13457)
- Brain Tumour Charity (16/92, 10/106)
- Bundesministerium für Bildung und Forschung (01GS0883)
- Hungarian Scientific Research Fund
- Max-Planck-Gesellschaft
- Deutsche Krebshilfe (109252)
- Heidelberger Zentrum für Personalisierte Onkologie Deutsches Krebsforschungszentrum In Der Helmholtz-Gemeinschaft
- National Cancer Institute (R01CA109467)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P30HD018655)
- Topics
- Health Sciences › Medicine › Oncology › Glioma Diagnosis and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
- Keywords
- medulloblastoma, Group 3 medulloblastoma, Group 4 medulloblastoma, tetraploidy, somatic copy number alterations, TGF-beta signaling, NF-κB signaling, recurrent mutations, pediatric brain tumors, tumor heterogeneity
- MeSH terms
- Patched Receptors, Patched-1 Receptor, Aging, Amino Acid Sequence, Cell Transformation, Neoplastic, Cerebellar Neoplasms, Child, Chromatin, Chromosomes, Human, DNA Helicases, DNA-Binding Proteins, Humans, Medulloblastoma, Methylation, Mutation, Neoplasm Proteins, Nuclear Proteins, Phosphoprotein Phosphatases, Polyploidy, Receptors, Cell Surface, Transcription Factors, Signal Transduction, Oncogene Proteins, Fusion, Genome, Human, Sequence Analysis, RNA, T-Box Domain Proteins, Genomics, Wnt Proteins, beta Catenin, DEAD-box RNA Helicases, Hedgehog Proteins, Histone Demethylases, High-Throughput Nucleotide Sequencing, Mutation Rate
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