Cited by 880Sarcoma Diagnosis and TreatmentChromatin Remodeling and CancerAcute Lymphoblastic Leukemia research

The DOI matches its Crossref record; 251 of the 251 references it cites were found in a registry or an index.

Ewing sarcoma

Grünewald, Thomas G. P., Cidre-Aranaz, Florencia, Surdez, Didier, Tomazou, Eleni M., de Álava, Enrique, Kovar, Heinrich, Sorensen, Poul H., Delattre, Olivier, Dirksen, Uta·2018·Nature Reviews Disease Primers

DOI 10.1038/s41572-018-0003-x

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Abstract

Ewing sarcoma is the second most frequent bone tumour of childhood and adolescence that can also arise in soft tissue. Ewing sarcoma is a highly aggressive cancer, with a survival of 70-80% for patients with standard-risk and localized disease and ~30% for those with metastatic disease. Treatment comprises local surgery, radiotherapy and polychemotherapy, which are associated with acute and chronic adverse effects that may compromise quality of life in survivors. Histologically, Ewing sarcomas are composed of small round cells expressing high levels of CD99. Genetically, they are characterized by balanced chromosomal translocations in which a member of the FET gene family is fused with an ETS transcription factor, with the most common fusion being EWSR1-FLI1 (85% of cases). Ewing sarcoma breakpoint region 1 protein (EWSR1)-Friend leukaemia integration 1 transcription factor (FLI1) is a tumour-specific chimeric transcription factor (EWSR1-FLI1) with neomorphic effects that massively rewires the transcriptome. Additionally, EWSR1-FLI1 reprogrammes the epigenome by inducing de novo enhancers at GGAA microsatellites and by altering the state of gene regulatory elements, creating a unique epigenetic signature. Additional mutations at diagnosis are rare and mainly involve STAG2, TP53 and CDKN2A deletions. Emerging studies on the molecular mechanisms of Ewing sarcoma hold promise for improvements in early detection, disease monitoring, lower treatment-related toxicity, overall survival and quality of life.

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Authors: Grünewald, T. G. P., Cidre-Aranaz, F., Surdez, D., Tomazou, E. M., de Álava, E., Kovar, H., Sorensen, P. H., Delattre, O., & Dirksen, U.
Affiliations: German Cancer Research Center (DE)
Inserm (FR)
St. Anna Children's Cancer Research Institute (AT)
University of British Columbia (CA)
Corresponding author: Grünewald, Thomas G. P.
ORCID: Grünewald, Thomas G. P.
Surdez, Didier
Tomazou, Eleni M.
Kovar, Heinrich
Sorensen, Poul H.
Delattre, Olivier
Dirksen, Uta
Venue: Nature Reviews Disease Primers
Publisher: Springer Science and Business Media LLC
Published: 2018-07-05
Volume: 4
Issue: 1
Pages: 5-5
ISSN: 2056-676X (ISSN-L)
DOI: 10.1038/s41572-018-0003-x
OpenAlex: W4211227438
Cited by: 873
References: 250
Citations by year: 2026: 114 · 2025: 155 · 2024: 104 · 2023: 103 · 2022: 158 · 2021: 115 · 2020: 66 · 2019: 49 · 2018: 8
FWCI: 10.61
Type: journal article
Language: en
Open access: closed
Licence: www.springernature.com/gp/researchers/text-and-data-mining (tdm)
www.springernature.com/gp/researchers/text-and-data-mining (vor)
Locations: Nature Reviews Disease Primers (publishedVersion)
PubMed (publishedVersion)
DIGITAL.CSIC (Spanish National Research Council (CSIC)) (submittedVersion)
Topics: Health Sciences › Medicine › Oncology › Sarcoma Diagnosis and Treatment
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
Health Sciences › Medicine › Hematology › Acute Lymphoblastic Leukemia research
Keywords: Ewing sarcoma, EWSR1-FLI1 fusion, CD99, epigenetic reprogramming, STAG2 mutation, TP53 mutation, CDKN2A deletion, treatment toxicity, cancer survivorship, soft tissue sarcoma
MeSH terms: 12E7 Antigen, Humans, Neoplasm Metastasis, Quality of Life, Radiography, Risk Factors, Sarcoma, Ewing, RNA-Binding Protein EWS, Proto-Oncogene Protein c-fli-1

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