The DOI matches its Crossref record; 25 of the 27 references it cites were found in a registry or an index.
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
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
Self-citation
Flagged first, then by citations
2 of the 27 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Items 401–500 of 852
Molecular Profiling of a Rare Rosette-Forming Glioneuronal Tumor Arising in the Spinal Cord
Bidinotto, L. T., Scapulatempo‐Neto, C., Mackay, A. G., de Almeida, G. C., Scheithauer, B. W., Berardinelli, G. N., Torrieri, R., Clara, C., Feltrin, L. T., Viana‐Pereira, M., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0137690 · Cited by 29
Ctdnep1 and Eps8L2 regulate dorsal actin cables for nuclear positioning during cell migration
Calero-Cuenca, F. J., Osório, D. S., Carvalho-Marques, S., Sridhara, S. R. C., Oliveira, L. M., Jiao, Y., Diaz, J., Janota, C. S., Cadot, B., & Gomes, E. R. (2021) · Current Biology · doi:10.1016/j.cub.2021.01.007 · Cited by 27
Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies
Denisova, E., Westphal, D., Surowy, H., Meier, F. E., Hutter, B., REIFENBERGER, J., Rütten, A., Schulz, A., Sergon, M., Ziemer, M., et al. (2021) · Cancer Gene Therapy · doi:10.1038/s41417-021-00347-z · Cited by 29
Self-citationHeterogeneity and tumoral origin of medulloblastoma in the single-cell era
Sheng, H., Li, H., Zeng, H., Zhang, B., Yu, L., Liu, X., Xu, Z., Zhang, J., & Zhang, L. (2024) · Oncogene · doi:10.1038/s41388-024-02967-9 · Cited by 30
The development of Wilms tumor: From WT1 and microRNA to animal models
Tian, F., Yourek, G., Shi, X., & Yang, Y. (2014) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2014.07.003 · Cited by 28
Kaur, R., Aiken, C., Morrison, L. C., Rao, R., Bigio, M. R. D., Rampalli, S., & Werbowetski‐Ogilvie, T. E. (2015) · Disease Models & Mechanisms · doi:10.1242/dmm.020594 · Cited by 28
Kumar, V., Wang, Q., Sethi, B., Feng, L., Kumar, V., Coulter, D. W., Dong, Y., & Mahato, R. I. (2021) · Biomaterials · doi:10.1016/j.biomaterials.2021.121138 · Cited by 29
Self-citationTargeting DEAD ‐box RNA helicases: The emergence of molecular staples
Naineni, S. K., Robert, F., Nagar, B., & Pelletier, J. (2022) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.1738 · Cited by 28
Genetic alterations of TP53 and OTX2 indicate increased risk of relapse in WNT medulloblastomas
Goschzik, T., Mynarek, M., Doerner, E., Schenk, A., Spier, I., Warmuth‐Metz, M., Bison, B., Obrecht, D., Struve, N., Kortmann, R., et al. (2022) · Acta Neuropathologica · doi:10.1007/s00401-022-02505-5 · Cited by 27
Self-citationMyoD Is a Tumor Suppressor Gene in Medulloblastoma
Dey, J., Dubuc, A. M., Pedro, K. D., Thirstrup, D. J., Mecham, B., Northcott, P. A., Wu, X., Shih, D. J. H., Tapscott, S. J., LeBlanc, M. L., et al. (2013) · Cancer Research · doi:10.1158/0008-5472.can-13-0730-t · Cited by 30
Self-citationProteomic analysis of human sonic hedgehog (SHH) medulloblastoma stem-like cells
Ronci, M., Catanzaro, G., Pieroni, L., Pò, A., Besharat, Z. M., Greco, V., Mortera, S. L., Screpanti, I., Ferretti, E., & Urbani, A. (2015) · Molecular BioSystems · doi:10.1039/c5mb00034c · Cited by 28
Wei, J. S., Johansson, P. A., Chen, L., Song, Y., Tolman, C., Li, S., Hurd, L., Patidar, R., Wen, X., Badgett, T., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0077731 · Cited by 27
Crowther, A., Ocasio, J. K., Fang, F., Meidinger, J., Wu, J., Deal, A. M., Chang, S., Yuan, H., Schmid, R. S., Davis, I. J., et al. (2016) · Cancer Research · doi:10.1158/0008-5472.can-15-0025 · Cited by 28
Hedgehog inhibitors: a patent review (2013 – present)
Xin, M. (2015) · Expert Opinion on Therapeutic Patents · doi:10.1517/13543776.2015.1019864 · Cited by 27
Wang, R., Kang, Y., Löhr, C. V., Fischer, K. A., Bradford, C. S., Johnson, G. S., Dashwood, W. M., Williams, D. E., Ho, E., & Dashwood, R. H. (2016) · Cancer Letters · doi:10.1016/j.canlet.2016.08.008 · Cited by 27
Luo, Z., Liao, Y., Xin, D., Berry, K., Ogurek, S., Dong, X., Li, H., Yu, J., Zhang, F., Han, R., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-36400-8 · Cited by 26
Self-citationDeclining childhood and adolescent cancer mortality: Great progress but still much to be done
Pritchard‐Jones, K., & Hargrave, D. R. (2014) · Cancer · doi:10.1002/cncr.28745 · Cited by 28
Xu, J., Margol, A., Shukla, A., Ren, X., Finlay, J. L., Krieger, M. D., Gilles, F. H., Couch, F. J., Aziz, M., Fung, E. T., et al. (2015) · Frontiers in Oncology · doi:10.3389/fonc.2015.00191 · Cited by 27
Rhabdoid Tumors: An Initial Clue to the Role of Chromatin Remodeling in Cancer
Lee, R. S., & Roberts, C. W. M. (2013) · Brain Pathology · doi:10.1111/bpa.12021 · Cited by 27
Nozaki, K., Kagamu, H., Shoji, S., Igarashi, N., Ohtsubo, A., Okajima, M., Miura, S., Watanabe, S., Yoshizawa, H., & Narita, I. (2014) · PLoS ONE · doi:10.1371/journal.pone.0111019 · Cited by 27
Röhrich, M., Huang, K. T. L., Schrimpf, D., Albert, N. L., Hielscher, T., von Deimling, A., Schüller, U., Dimitrakopoulou‐Strauss, A., & Haberkorn, U. (2018) · European Journal of Nuclear Medicine and Molecular Imaging · doi:10.1007/s00259-018-4009-0 · Cited by 27
Self-citationModeling Brain Tumors: A Perspective Overview of in vivo and Organoid Models
Antonica, F., Aiello, G., Soldano, A., Abballe, L., Miele, E., & Tiberi, L. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.818696 · Cited by 28
Adult Medulloblastoma: Updates on Current Management and Future Perspectives
Franceschi, E., Giannini, C., Furtner, J., Pajtler, K. W., Asioli, S., Guzman, R. G., Seidel, C., Gatto, L., & Hau, P. (2022) · Cancers · doi:10.3390/cancers14153708 · Cited by 27
Signaling pathway and molecular subgroups of medulloblastoma.
Li, K. K., Lau, K., & Ng, H. (2013) · Europe PMC (PubMed Central) · Cited by 26
Case-based review: pediatric medulloblastoma
Kline, C., Packer, R. J., Hwang, E. I., Raleigh, D. R., Braunstein, S. E., Raffel, C., Bandopadhayay, P., Solomon, D. A., Aboian, M., Cha, S., et al. (2017) · Neuro-Oncology Practice · doi:10.1093/nop/npx011 · Cited by 26
In silico analysis of long non-coding RNAs in medulloblastoma and its subgroups
Joshi, P. K., Jallo, G. I., & Perera, R. J. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.104873 · Cited by 25
Long non-coding RNA profiling of pediatric Medulloblastoma
Kesherwani, V., Shukla, M., Coulter, D. W., Sharp, J. G., Joshi, S. S., & Chaturvedi, N. K. (2020) · BMC Medical Genomics · doi:10.1186/s12920-020-00744-7 · Cited by 25
Collection, integration and analysis of cancer genomic profiles: from data to insight
Gao, J., Ciriello, G., Sander, C., & Schultz, N. D. (2014) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2013.12.003 · Cited by 25
Novel nonsense GNAS mutation in a 14‐month‐old boy with plate‐like osteoma cutis and medulloblastoma
Huh, J. Y., Kwon, M., Seo, K. Y., Kim, M. K., Chae, K. Y., Kim, S. H., Ki, C., Yoon, M. S., & Kim, D. H. (2014) · The Journal of Dermatology · doi:10.1111/1346-8138.12284 · Cited by 25
Dietl, S., Schwinn, S., Dietl, S., Riedel, S. S., Deinlein, F., Rutkowski, S., von Bueren, A. O., Krauß, J., Schweitzer, T., Vince, G. H., et al. (2016) · BMC Cancer · doi:10.1186/s12885-016-2170-z · Cited by 25
Self-citationSandén, E., Dyberg, C. H., Krona, C. C., Gallo-Oller, G., Olsen, T. K., Pérez, J. E., Wickström, M., Estekizadeh, A., Kool, M., Visse, E., et al. (2017) · Scientific Reports · doi:10.1038/srep46366 · Cited by 25
Self-citationCopsey, A. C., Cooper, S. E., Parker, R., Lineham, E., Lapworth, C., Jallad, D., Sweet, S. M. M., & Morley, S. (2017) · Biochemical Journal · doi:10.1042/bcj20170354 · Cited by 25
Wu, B., Pan, X., Chen, X., Chen, M., Shi, K., Xu, J., Zheng, J., Niu, T., Chen, C., Shuai, X., et al. (2019) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-019-0040-2 · Cited by 25
Cancer of the Central Nervous System
Dorsey, J. F., Salinas, R. D., Dang, M. T., Alonso‐Basanta, M., Judy, K. D., Maity, A. M., Lustig, R. A., Lee, J. Y. K., Phillips∥, P. C., & Pruitt, A. A. (2020) · Elsevier eBooks · doi:10.1016/b978-0-323-47674-4.00063-3 · Cited by 26
Oncogene aberrations drive medulloblastoma progression, not initiation
Okonechnikov, K., Joshi, P. K., Körber, V., Rademacher, A., Bortolomeazzi, M., Mallm, J., Vaillant, J., da Silva, P. B. G., Statz, B., Sepp, M., et al. (2025) · Nature · doi:10.1038/s41586-025-08973-5 · Cited by 27
Self-citationGenome variation and personalized cancer medicine
Hudson, T. J. (2013) · Journal of Internal Medicine · doi:10.1111/joim.12097 · Cited by 25
Ahmad, Z., Jasnos, L., Gil, V., Howell, L., Hallsworth, A., Petrie, K. R., Sawado, T., & Chesler, L. (2015) · PLoS ONE · doi:10.1371/journal.pone.0119834 · Cited by 24
Bens, S., Zichner, T., Stütz, A. M., Caliebe, A., Wagener, R., Hoff, K., Korbel, J. O., von Bismarck, P., & Siebert, R. (2014) · Genes and Immunity · doi:10.1038/gene.2013.73 · Cited by 24
Self-citationMitochondrial mutations in human cancer: Curation of translation
Caudron‐Herger, M., & Diederichs, S. (2017) · RNA Biology · doi:10.1080/15476286.2017.1373239 · Cited by 24
Breckwoldt, M. O., Bode, J., Sahm, F., Krüwel, T., Solecki, G. M., Hahn, A., Wirthschaft, P., Berghoff, A. S., Haas, M., Venkataramani, V., et al. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2018.01004 · Cited by 24
Self-citationEmbryonal Tumors of the Central Nervous System
Blessing, M. M., & Alexandrescu, S. (2020) · Surgical pathology clinics · doi:10.1016/j.path.2020.01.003 · Cited by 24
Vo, T., Balderson, B., Jones, K., Ni, G., Crawford, J., Millar, A., Tolson, E., Singleton, M., Mulay, O., Walters, S. B., et al. (2023) · Genome Medicine · doi:10.1186/s13073-023-01185-4 · Cited by 22
KMT2D suppresses Sonic hedgehog-driven medulloblastoma progression and metastasis
Sanghrajka, R. M., Koche, R. P., Medrano, H., Nagar, S. E., Stephen, D. N., Lao, Z., Bayin, N. S., Ge, K., & Joyner, A. L. (2023) · iScience · doi:10.1016/j.isci.2023.107831 · Cited by 29
Proteomic profiling of high risk medulloblastoma reveals functional biology
Staal, J. A., Lau, L. S., Zhang, H., Ingram, W. J., Hallahan, A. R., Northcott, P. A., Pfister, S. M., Wechsler‐Reya, R. J., Rusert, J. M., Taylor, M. D., et al. (2015) · Oncotarget · doi:10.18632/oncotarget.3927 · Cited by 23
Self-citationDahlin, A. M., Hollegaard, M. V., Wibom, C., Andersson, U., HOUGAARD, D. M., Deltour, I., Hjalmars, U., & Melin, B. (2015) · Journal of Neuro-Oncology · doi:10.1007/s11060-015-1891-1 · Cited by 23
Dullard/Ctdnep1 Regulates Endochondral Ossification via Suppression of TGF-β Signaling
Hayata, T., Yoichi, Ezura, Asashima, M., Nishinakamura, R., & Noda, M. (2014) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.2343 · Cited by 23
Emerging Insights into the Ependymoma Epigenome
Mack, S. C., Witt, H., Wang, X., Milde, T., Yao, Y., Bertrand, K. C., Korshunov, A., Pfister, S. M., & Taylor, M. D. (2013) · Brain Pathology · doi:10.1111/bpa.12020 · Cited by 22
Self-citationBrain Tumors: Challenges and Opportunities to Cure
Mellinghoff, I. K., & Gilbertson, R. J. (2017) · Journal of Clinical Oncology · doi:10.1200/jco.2017.74.2965 · Cited by 22
A Sexually Dimorphic Role for STAT3 in Sonic Hedgehog Medulloblastoma
White, C. L., Jayasekara, W. S. N., Picard, D. J., Chen, J., Watkins, D. N., Cain, J. E., Remke, M., & Gough, D. J. (2019) · Cancers · doi:10.3390/cancers11111702 · Cited by 22
Self-citationBerger, A. K., Mughal, S. S., Allgäuer, M., Springfeld, C., Hackert, T., Weber, T. F., Naumann, P., Hutter, B., Horak, P., Jahn, A., et al. (2020) · Pancreatology · doi:10.1016/j.pan.2020.02.017 · Cited by 22
Self-citationNon-Canonical Splicing and Its Implications in Brain Physiology and Cancer
Pitolli, C., Marini, A., Sette, C., & Pagliarini, V. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23052811 · Cited by 23
Yamaguchi, J., Ohka, F., Kitano, Y., Maeda, S., Motomura, K., Aoki, K., Takeuchi, K., Nagata, Y., Hattori, H., Tsujiuchi, T., et al. (2023) · Cancer Science · doi:10.1111/cas.15762 · Cited by 21
Ćwiek, P., Leni, Z., Salm, F., Dimitrova, V., Styp‐Rekowska, B., Chiriano, G., Carroll, M., Höland, K., Djonov, V., Scapozza, L., et al. (2014) · Oncotarget · doi:10.18632/oncotarget.2699 · Cited by 22
Suero-Abreu, G. A., Raju, G. P., Aristizábal, O., Volkova, E. R., Wojcinski, A., Houston, E. J., Pham, D., Szulc, K., Colon, D., Joyner, A., et al. (2014) · Neoplasia · doi:10.1016/j.neo.2014.10.001 · Cited by 22
Epigenetic cerebellar diseases
Serrano, M. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-64189-2.00015-9 · Cited by 22
Effects of Neurod1 Expression on Mouse and Human Schwannoma Cells
Kersigo, J., Gu, L., Xu, L., Pan, N., Vijayakuma, S., Jones, T. A., Shibata, S. B., Fritzsch, B., & Hansen, M. R. (2020) · The Laryngoscope · doi:10.1002/lary.28671 · Cited by 22
Advances in the classification and treatment of pediatric brain tumors
Fangusaro, J., & Bandopadhayay, P. (2020) · Current Opinion in Pediatrics · doi:10.1097/mop.0000000000000975 · Cited by 23
Batmanov, K., Wang, W. J., Bjørås, M., Delabie, J., & Wang, J. (2017) · Scientific Reports · doi:10.1038/s41598-017-07226-4 · Cited by 22
Drosophila SETs Its Sights on Cancer: Trr/MLL3/4 COMPASS-Like Complexes in Development and Disease
Morgan, M. A., & Shilatifard, A. (2013) · Molecular and Cellular Biology · doi:10.1128/mcb.00203-13 · Cited by 21
Oncogenic BRAF induces whole-genome doubling through suppression of cytokinesis
Darp, R., Vittoria, M. A., Ganem, N. J., & Ceol, C. J. (2022) · Nature Communications · doi:10.1038/s41467-022-31899-9 · Cited by 22
Targeting the medulloblastoma: a molecular-based approach.
Luzzi, S., Lucifero, A. G., Brambilla, I., Mantelli, S. S., Mosconi, M., Foiadelli, T., & Savasta, S. (2020) · Acta bio-medica dell'Ateneo parmense/Acta biomedica · doi:10.23750/abm.v91i7-s.9958 · Cited by 21
Deep Sequencing Identifies IDH1 R132S Mutation in Adult Medulloblastoma
Snuderl, M., Triscott, J., Northcott, P. A., Shih, H. A., Kong, E., Robinson, H. E., Dunn, S. E., Iafrate, A. J., & Yip, S. S. F. (2014) · Journal of Clinical Oncology · doi:10.1200/jco.2013.49.4864 · Cited by 21
Self-citationIzquierdo, E., Yuan, L., George, S. L., Hubank, M. J. F., Jones, C., Proszek, P., SHIPLEY, J. M., Gatz, S. A., Stinson, C. L., Moore, A. S., et al. (2017) · Oncotarget · doi:10.18632/oncotarget.23000 · Cited by 20
Self-citationPathology of the Tumors of the Central Nervous System
Bumci, R., Parthymos, I., Zamboglou, C., & GOUSSIA, A. C. (2023) · Springer eBooks · doi:10.1007/978-3-031-33517-4_6 · Cited by 22
Medulloblastoma development: tumor biology informs treatment decisions
Gopalakrishnan, V., Tao, R.-H., Dobson, T., Brugmann, W. B., & Khatua, S. (2015) · CNS Oncology · doi:10.2217/cns.14.58 · Cited by 20
Gondal, M. N., & Chaudhary, S. U. (2021) · Frontiers in Oncology · doi:10.3389/fonc.2021.712505 · Cited by 19
Schoof, M., Godbole, S., Albert, T., Dottermusch, M., Walter, C., Ballast, A., Qin, N., Olivera, M. B., Göbel, C., Neyazi, S., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-43564-w · Cited by 20
Self-citationSignals that regulate the oncogenic fate of neural stem cells and progenitors
Swartling, F. J., Bolin, S., Phillips, J. J., & Persson, A. I. (2013) · Experimental Neurology · doi:10.1016/j.expneurol.2013.01.027 · Cited by 22
Deep Sequencing in Cancer Research
Yoshida, K., Sanada, M., & Seishi, O. (2012) · Japanese Journal of Clinical Oncology · doi:10.1093/jjco/hys206 · Cited by 21
Zhengyuan, X., Hu, X., Wang, Q., Nanxiang, L., Cai, J., & Wangming, Z. (2017) · Medical Science Monitor · doi:10.12659/msm.904675 · Cited by 20
Self-citationTamayo-Orrego, L., & Charron, F. (2019) · F1000Research · doi:10.12688/f1000research.20013.1 · Cited by 23
Brown, N. P., Vergara, A. M., Whelan, A. B., Guerra, P., & Bolger, T. A. (2021) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2021.100296 · Cited by 21
Deep sequencing of WNT-activated medulloblastomas reveals secondary SHH pathway activation
Iorgulescu, J. B., Ziffle, J. V., Stevers, M., Grenert, J. P., Bastian, B. C., Chávez, L., Stichel, D., Buchhalter, I., Samuel, D., Nicolaides, T. P., et al. (2018) · Acta Neuropathologica · doi:10.1007/s00401-018-1819-x · Cited by 19
Self-citationCENPE Inhibition Leads to Mitotic Catastrophe and DNA Damage in Medulloblastoma Cells
Iegiani, G., Gai, M., Cunto, F. D., & Pallavicini, G. (2021) · Cancers · doi:10.3390/cancers13051028 · Cited by 19
Meredith, D. M., & Alexandrescu, S. (2022) · Brain Pathology · doi:10.1111/bpa.13059 · Cited by 19
Zhao, Z., Cao, K., Watanabe, J., Philips, C. N., Zeidner, J. M., Ishi, Y., Wang, Q., Gold, S. R., Junkins, K., Bartom, E. T., et al. (2023) · Journal of Clinical Investigation · doi:10.1172/jci169993 · Cited by 19
Self-citationShi, X., Zhan, X., & Wu, J. (2015) · Oncogenesis · doi:10.1038/oncsis.2015.38 · Cited by 23
Identification of immunotherapeutic targets by genomic profiling of rectal NET metastases
Koşaloğlu‐Yalçın, Z., Zörnig, I., Halama, N., Kaiser, I., Buchhalter, I., Grabe, N., Eils, R., Schlesner, M., Califano, A., & Jäger, D. (2016) · OncoImmunology · doi:10.1080/2162402x.2016.1213931 · Cited by 21
Self-citationBaf53a is involved in survival of mouse ES cells, which can be compensated by Baf53b
Zhu, B., Ueda, A., Song, X., Horike, S., Yokota, T., & Akagi, T. (2017) · Scientific Reports · doi:10.1038/s41598-017-14362-4 · Cited by 19
Robbins, C. T., Bou-Dargham, M. J., Sanchez, K. G., Rosen, M. C., & Sang, Q. A. (2018) · Journal of Cancer · doi:10.7150/jca.27993 · Cited by 18
Mutational landscape of head and neck squamous cell carcinomas in a South Asian population
Ghias, K. K., Rehmani, S. S., Razzak, S. A., Madhani, S., Azim, M. K., Ahmed, R., & Khan, M. J. (2019) · Genetics and Molecular Biology · doi:10.1590/1678-4685-gmb-2018-0005 · Cited by 19
Combination of BMI1 and MAPK/ERK inhibitors is effective in medulloblastoma
Badodi, S., Pomella, N., Lim, Y. M., Brandner, S., Morrison, G. M., Pollard, S. M., Zhang, X., Zabet, N. R., & Marino, S. (2022) · Neuro-Oncology · doi:10.1093/neuonc/noac052 · Cited by 17
Asuthkar, S., Venkataraman, S., Janardhan, A., Shishido, K., Vibhakar, R., Veo, B. L., Purvis, I. J., Guda, M. R., & Velpula, K. K. (2022) · Cancers · doi:10.3390/cancers14071673 · Cited by 18
A Dual Role of DDX3X in dsRNA-Derived Innate Immune Signaling
Kwon, J., Choi, H., & Han, C. (2022) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2022.912727 · Cited by 19
PTEN Signaling in the Postnatal Perivascular Progenitor Niche Drives Medulloblastoma Formation
Zhu, G. G., Rankin, S. L., Larson, J. D., Zhu, X., Chow, L. M. L., Qu, C., Zhang, J., Ellison, D. W., & Baker, S. J. (2016) · Cancer Research · doi:10.1158/0008-5472.can-16-1991 · Cited by 18
In silico SNP analysis of the breast cancer antigen NY-BR-1
Koşaloğlu‐Yalçın, Z., Bitzer, J., Halama, N., Huang, Z., Zapatka, M., Schneeweiß, A., Jäger, D., & Zörnig, I. (2016) · BMC Cancer · doi:10.1186/s12885-016-2924-7 · Cited by 17
Self-citationGogolin, S., Batra, R., Harder, N., Ehemann, V., Paffhausen, T., Diessl, N., Sagulenko, V., Benner, A., Gade, S., Nolte, I. J. A., et al. (2012) · Cancer Letters · doi:10.1016/j.canlet.2012.11.028 · Cited by 18
Virk, S. M., Gibson, R. M., Quiñones‐Mateu, M. E., & Barnholtz‐Sloan, J. S. (2015) · PLoS ONE · doi:10.1371/journal.pone.0124178 · Cited by 17
Medulloblastoma epigenetics and the path to clinical innovation
Haltom, A. R., Toll, S. A., Cheng, D., Maegawa, S., Gopalakrishnan, V., & Khatua, S. (2020) · Journal of Neuro-Oncology · doi:10.1007/s11060-020-03591-9 · Cited by 17
Three‐dimensional genome structure and function
Liu, H., Tsai, H., Yang, M., Li, G., Bian, Q., Ding, G., Wu, D., & Dai, J. (2023) · MedComm · doi:10.1002/mco2.326 · Cited by 25
Intertumoral and Intratumoral Heterogeneity as a Barrier for Effective Treatment of Medulloblastoma
Wang, X., Ramaswamy, V., Remke, M., Mack, S. C., Dubuc, A. M., Northcott, P. A., & Taylor, M. D. (2013) · Neurosurgery · doi:10.1227/01.neu.0000430318.01821.6f · Cited by 18
Self-citationVasospasm: My First 25 Years—What Worked? What Didn’t? What Next?
Macdonald, R. L. (2014) · Acta neurochirurgica. Supplementum · doi:10.1007/978-3-319-04981-6_1 · Cited by 17
Molecular Basis of Pediatric Brain Tumors
Κλώνου, Α., Piperi, C., Gargalionis, A. N., & Papavassiliou, A. G. (2017) · NeuroMolecular Medicine · doi:10.1007/s12017-017-8455-9 · Cited by 17
The Non-coding Side of Medulloblastoma
Laneve, P., & Caffarelli, E. (2020) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.00275 · Cited by 17
Trubicka, J., Żemojtel, T., Hecht, J., Falana, K., Piekutowska‐Abramczuk, D., Płoski, R., Perek‐Polnik, M., Drogosiewicz, M., Grajkowska, W., Ciara, E., et al. (2017) · BMC Cancer · doi:10.1186/s12885-017-3211-y · Cited by 17
Schweizer, Y., Mészáros, Z., Jones, D., Koelsche, C., Boudalil, M., Fiesel, P., Schrimpf, D., Piro, R. M., Brehmer, S., von Deimling, A., et al. (2017) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/nlx044 · Cited by 17
Self-citationClinical and pre-clinical utility of genomics in medulloblastoma
Nör, C., & Ramaswamy, V. (2018) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2018.1503536 · Cited by 17
Möhrmann, L., Rostock, L., Werner, M., Oleś, M., Arnold, J. S., Paramasivam, N., Jöhrens, K., Rupp, L., Schmitz, M., Richter, D., et al. (2025) · Med · doi:10.1016/j.medj.2025.100612 · Cited by 16
Self-citationNext-generation molecular genetics of brain tumours
Suvà, M. L., & Louis, D. N. (2013) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000027 · Cited by 16
An, Ö., Pendino, V., Ratti, E., Gentilini, M., & Ciccarelli, F. D. (2014) · Cited by 16
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
