The landscape of genomic alterations across childhood cancers
Open accessAbstract
Pan-cancer analyses that examine commonalities and differences among various cancer types have emerged as a powerful way to obtain novel insights into cancer biology. Here we present a comprehensive analysis of genetic alterations in a pan-cancer cohort including 961 tumours from children, adolescents, and young adults, comprising 24 distinct molecular types of cancer. Using a standardized workflow, we identified marked differences in terms of mutation frequency and significantly mutated genes in comparison to previously analysed adult cancers. Genetic alterations in 149 putative cancer driver genes separate the tumours into two classes: small mutation and structural/copy-number variant (correlating with germline variants). Structural variants, hyperdiploidy, and chromothripsis are linked to TP53 mutation status and mutational signatures. Our data suggest that 7–8% of the children in this cohort carry an unambiguous predisposing germline variant and that nearly 50% of paediatric neoplasms harbour a potentially druggable event, which is highly relevant for the design of future clinical trials.
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The genomic complexity of osteosarcoma might suggest sensitivity to immune modulators such as immune-checkpoint inhibitors, but the overall mutational burden within most osteosarcomas is markedly less than that associated with responses to immune-checkpoint inhibition in other adult tumours.
“The genomic complexity of osteosarcoma might suggest sensitivity to immune modulators such as immune-checkpoint inhibitors (ICIs) but the overall mutational burden within most osteosarcomas is markedly less than that associated with responses to immune-checkpoint inhibition in other adult tumours 83 .”
From Osteosarcoma (2022) · cites this paper as [83]
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Flagged first, then by citations
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Portrait of a cancer: mutational signature analyses for cancer diagnostics
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- Authors
- ICGC PedBrain-Seq Project, Gröbner, S. N., ICGC MMML-Seq Project, Worst, B. C., Weischenfeldt, J., Buchhalter, I., Kleinheinz, K., Rudneva, V. A., Johann, P. D., Balasubramanian, G. P., Segura-Wang, M., Brabetz, S., Bender, S., Hutter, B., Sturm, D., Pfaff, E., Hübschmann, D., Zipprich, G., Heinold, M., Eils, J., Lawerenz, C., Erkek, S., Lambo, S., Waszak, S., Blattmann, C., Borkhardt, A., Kuhlen, M., Eggert, A., Fulda, S., Gessler, M., Wegert, J., Kappler, R., Baumhoer, D., Burdach, S., Kirschner-Schwabe, R., Kontny, U., Kulozik, A. E., Lohmann, D., Hettmer, S., Eckert, C., Bielack, S., Nathrath, M., Niemeyer, C., Richter, G. H., Schulte, J., Siebert, R., Westermann, F., Molenaar, J. J., Vassal, G., Witt, H., Burkhardt, B., Kratz, C. P., Witt, O., van Tilburg, C. M., Kramm, C. M., Fleischhack, G., Dirksen, U., Rutkowski, S., Frühwald, M., von Hoff, K., Wolf, S., Klingebiel, T., Koscielniak, E., Landgraf, P., Koster, J., Resnick, A. C., Zhang, J., Liu, Y., Zhou, X., Waanders, A. J., Zwijnenburg, D. A., Raman, P., Brors, B., Weber, U. D., Northcott, P. A., Pajtler, K. W., Kool, M., Piro, R. M., Korbel, J. O., Schlesner, M., Eils, R., Jones, D. T. W., Lichter, P., Chavez, L., Zapatka, M., & Pfister, S. M.
- Affiliations
- German Cancer Research Center (DE)
- University of Copenhagen (DK)
- St. Jude Children's Research Hospital (US)
- University of Basel (CH)
- University Medical Center Freiburg (DE)
- Universität Ulm (DE)
- Universitätsklinikum Gießen und Marburg (DE)
- Universitätsmedizin Göttingen (DE)
- University Hospital Augsburg (DE)
- University Medical Center Hamburg-Eppendorf (DE)
- Children's Hospital of Philadelphia (US)
- Corresponding author
- Pfister, Stefan M.
- ORCID
- Weischenfeldt, Joachim
- Buchhalter, Ivo
- Kleinheinz, Kortine
- Rudneva, Vasilisa A.
- Johann, Pascal D.
- Balasubramanian, Gnana Prakash
- Brabetz, Sebastian
- Hutter, Barbara
- Sturm, Dominik
- Pfaff, Elke
- Hübschmann, Daniel
- Erkek, Serap
- Lambo, Sander
- Waszak, Sebastian
- Blattmann, Claudia
- Borkhardt, Arndt
- Kuhlen, Michaela
- Eggert, Angelika
- Fulda, Simone
- Gessler, Manfred
- Wegert, Jenny
- Kappler, Roland
- Baumhoer, Daniel
- Burdach, Stefan
- Kontny, Udo
- Kulozik, Andreas E.
- Lohmann, Dietmar
- Hettmer, Simone
- Eckert, Cornelia
- Bielack, Stefan
- Nathrath, Michaela
- Niemeyer, Charlotte
- Richter, Günther H.
- Schulte, Johannes
- Siebert, Reiner
- Westermann, Frank
- Molenaar, Jan J.
- Vassal, Gilles
- Witt, Hendrik
- Burkhardt, Birgit
- Kratz, Christian P.
- Witt, Olaf
- Kramm, Christof M.
- Fleischhack, Gudrun
- Dirksen, Uta
- Rutkowski, Stefan
- Frühwald, Michael
- Klingebiel, Thomas
- Landgraf, Pablo
- Resnick, Adam C.
- Zhang, Jinghui
- Liu, Yanling
- Zhou, Xin
- Waanders, Angela J.
- Zwijnenburg, Danny A.
- Raman, Pichai
- Brors, Benedikt
- Northcott, Paul A.
- Pajtler, Kristian W.
- Kool, Marcel
- Piro, Rosario M.
- Korbel, Jan O.
- Schlesner, Matthias
- Eils, Roland
- Jones, David T. W.
- Lichter, Peter
- Zapatka, Marc
- Pfister, Stefan M.
- Venue
- Nature
- Published
- 2018-02-28
- Volume
- 555
- Issue
- 7696
- Pages
- 321-327
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2789869568
- Cited by
- 1,572
- References
- 98
- Citations by year
- 2026: 120 · 2025: 176 · 2024: 203 · 2023: 218 · 2022: 218 · 2021: 229 · 2020: 197 · 2019: 151 · 2018: 60
- FWCI
- 48.29
- Type
- journal article
- Language
- en
- Update notices
- correction (2018-06-06)
- Open access
- hybrid
- doi.org
- Locations
- Nature (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Kölner Universitäts PublikationsServer (Universität zu Köln) (publishedVersion)
- GoeScholar The Publication Server of the Georg-August-Universität Göttingen (Georg-August-Universität Göttingen) (publishedVersion, cc-by)
- Pure Amsterdam UMC (publishedVersion, other-oa)
- Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, cc-by)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- HAL (submittedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- GoeScholar The Publication Server of the Georg-August-Universität Göttingen (Georg-August-Universität Göttingen) (submittedVersion, cc-by)
- mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich) (submittedVersion, other-oa)
- mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich) (submittedVersion)
- OPen Access Repositorium der Universität Ulm (OPARU) (Ulm University) (submittedVersion, cc-by)
- Online Publication Service of Würzburg University (Würzburg University) (submittedVersion, cc-by)
- RWTH Publications (RWTH Aachen) (submittedVersion, other-oa)
- MPG.PuRe (Max Planck Society) (submittedVersion)
- OPUS (Augsburg University) (submittedVersion, cc-by)
- RWTH Publications (RWTH Aachen)
- Universität Ulm, Kommunikations- und Informationszentrum (kiz) (cc-by)
- Funders
- Deutsches Krebsforschungszentrum
- Bundesministerium für Bildung und Forschung (01EK1502B, 031A537C, 031A537A, 01KU1201A, 01KU1002A, 01KU1002J)
- Deutsche Krebshilfe (#108128, 109252)
- Deutsche Kinderkrebsstiftung
- Deutschen Konsortium für Translationale Krebsforschung
- German Network for Bioinformatics Infrastructure (031A537 A, #031A537C)
- Heidelberger Zentrum für Personalisierte Onkologie Deutsches Krebsforschungszentrum In Der Helmholtz-Gemeinschaft
- FP7 Ideas: European Research Council (336045)
- Topics
- 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
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- childhood cancer, adolescents and young adults, pan-cancer analysis, somatic mutations, copy number variation, structural variants, hyperdiploidy, chromothripsis, TP53 mutation, mutational signatures, cancer driver genes, molecular subtypes
- MeSH terms
- Chromothripsis, Adolescent, Adult, Child, Diploidy, Humans, Mutation, Neoplasms, Cohort Studies, Genome, Human, Tumor Suppressor Protein p53, Germ-Line Mutation, Genetic Predisposition to Disease, Genomics, Young Adult, DNA Copy Number Variations, Molecular Targeted Therapy, 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.
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