The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Genomic Landscape of Ewing Sarcoma Defines an Aggressive Subtype with Co-Association of STAG2 and TP53 Mutations
Open accessAbstract
Ewing sarcoma is a primary bone tumor initiated by EWSR1–ETS gene fusions. To identify secondary genetic lesions that contribute to tumor progression, we performed whole-genome sequencing of 112 Ewing sarcoma samples and matched germline DNA. Overall, Ewing sarcoma tumors had relatively few single-nucleotide variants, indels, structural variants, and copy-number alterations. Apart from whole chromosome arm copy-number changes, the most common somatic mutations were detected in STAG2 (17%), CDKN2A (12%), TP53 (7%), EZH2, BCOR, and ZMYM3 (2.7% each). Strikingly, STAG2 mutations and CDKN2A deletions were mutually exclusive, as confirmed in Ewing sarcoma cell lines. In an expanded cohort of 299 patients with clinical data, we discovered that STAG2 and TP53 mutations are often concurrent and are associated with poor outcome. Finally, we detected subclonal STAG2 mutations in diagnostic tumors and expansion of STAG2-immunonegative cells in relapsed tumors as compared with matched diagnostic samples. Significance: Whole-genome sequencing reveals that the somatic mutation rate in Ewing sarcoma is low. Tumors that harbor STAG2 and TP53 mutations have a particularly dismal prognosis with current treatments and require alternative therapies. Novel drugs that target epigenetic regulators may constitute viable therapeutic strategies in a subset of patients with mutations in chromatin modifiers. Cancer Discov; 4(11); 1342–53. ©2014 AACR. This article is highlighted in the In This Issue feature, p. 1243
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Mutational heterogeneity in cancer and the search for new cancer-associated genes
Lawrence, M. S., Stojanov, P., Polak, P., Kryukov, G. V., Cibulskis, K., Sivachenko, A., Carter, S. L., Stewart, C., Mermel, C. H., Roberts, S. A., et al. (2013) · Nature · doi:10.1038/nature12213 · Cited by 5,461
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma
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Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours
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Self-citationClinical Effect of Point Mutations in Myelodysplastic Syndromes
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The genetic basis of early T-cell precursor acute lymphoblastic leukaemia
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“WGS mapping, coverage, and quality assessment; SNVs; detection of small indels; tier annotation for sequence mutations; and prediction of adverse effects of missense mutations were previously described (14, 15).”
BackgroundSelf-citationRecurrent Somatic Structural Variations Contribute to Tumorigenesis in Pediatric Osteosarcoma
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Biological and therapeutic impact of intratumor heterogeneity in cancer evolution
McGranahan, N., & Swanton, C. (2015) · Cancer Cell · doi:10.1016/j.ccell.2014.12.001 · Cited by 1,077
Whole-genome landscape of pancreatic neuroendocrine tumours
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Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours
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Self-citationGrünewald, T. G. P., Cidre-Aranaz, F., Surdez, D., Tomazou, E. M., de Álava, E., Kovar, H., Sorensen, P. H., Delattre, O., & Dirksen, U. (2018) · Nature Reviews Disease Primers · doi:10.1038/s41572-018-0003-x · Cited by 873
Self-citationEwing Sarcoma: Current Management and Future Approaches Through Collaboration
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Metadata
- Authors
- Tirode, F., Surdez, D., Ma, X., Parker, M., Le Deley, M. C., Bahrami, A., Zhang, Z., Lapouble, E., Grossetête-Lalami, S., Rusch, M., Reynaud, S., Rio-Frio, T., Hedlund, E., Wu, G., Chen, X., Pierron, G., Oberlin, O., Zaidi, S., Lemmon, G., Gupta, P., Vadodaria, B., Easton, J., Gut, M., Ding, L., Mardis, E. R., Wilson, R. K., Shurtleff, S., Laurence, V., Michon, J., Marec-Bérard, P., Gut, I., Downing, J., Dyer, M., Zhang, J., & Delattre, O.
- Venue
- Cancer Discovery
- Published
- 2014-11-01
- Volume
- 4
- Issue
- 11
- Pages
- 1342-1353
- ISSN
- 2159-8274 (ISSN-L)
- 2159-8290
- OpenAlex
- W1994568630
- Cited by
- 565
- References
- 6
- FWCI
- 29.32
- Type
- journal article
- Language
- en
- Open access
- green
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- Tirode, F., Surdez, D., Ma, X., Parker, M., Le Deley, M. C., Bahrami, A., Zhang, Z., Lapouble, E., Grossetête-Lalami, S., Rusch, M., Reynaud, S., Rio-Frio, T., Hedlund, E., Wu, G., Chen, X., Pierron, G., Oberlin, O., Zaidi, S., Lemmon, G., . . . Delattre, O. (2014). Genomic Landscape of Ewing Sarcoma Defines an Aggressive Subtype with Co-Association of STAG2 and TP53 Mutations. Cancer Discovery. https://doi.org/10.1158/2159-8290.cd-14-0622
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
