• Gene fusion; HGNC; HGNC:3508; EWSR1 + HGNC; HGNC:3749; FLI1; Name(s)=EWSR1-FLI1, EWS-FLI1; Note=Type 1 fusion (Ex7/Ex6) (PubMed=11423975; PubMed=36476851).
  
• Mutation; HGNC; HGNC:11998; TP53; Simple; p.Leu194Arg (c.581T>G); ClinVar=VCV000376633; Zygosity=Unspecified (PubMed=25223734).
  

PubMed=11423975; DOI=10.1038/sj.onc.1204437
Luce Dauphinot, Catherine De Oliveira, Thomas Melot, Nicolas Sevenet, Venetia Thomas, Bernard E. Weissman, Olivier Delattre;
Analysis of the expression of cell cycle regulators in Ewing cell lines: EWS-FLI-1 modulates p57KIP2and c-Myc expression.
Oncogene 20:3258-3265(2001)

PubMed=25223734; DOI=10.1158/2159-8290.CD-14-0622; PMCID=PMC4264969
Franck Tirode, Didier Surdez, Xiao-Tu Ma, Matthew Parker, Marie-Cecile Le Deley, Armita Bahrami, Zhao-Jie Zhang, Eve Lapouble, Sandrine Grossetete-Lalami, Michael Rusch, Stephanie Reynaud ...Show all 35 authors... , Thomas Rio-Frio, Erin Hedlund, Gang Wu, Xiang Chen, Gaelle Pierron, Odile Oberlin, Sakina Zaidi, Gordon Lemmon, Pankaj Gupta, Bhavin Vadodaria, John Easton, Marta Gut, Li Ding, Elaine R. Mardis, Richard K. Wilson, Sheila Shurtleff, Valerie Laurence, Jean Michon, Perrine Marec-Berard, Ivo G. Gut, James R. Downing, Michael Anthony Dyer, Jing-Hui Zhang, Olivier Delattre; Show fewer authors
International Cancer Genome Consortium
St. Jude Children's Research Hospital-Washington University Pediatric Cancer Genome Project
Genomic landscape of Ewing sarcoma defines an aggressive subtype with co-association of STAG2 and TP53 mutations.
Cancer Discov. 4:1342-1353(2014)

DOI=10.5282/edoc.27750
Martin Franz Orth;
Systematic multi-omics profiling of Ewing sarcoma cell lines.
Thesis PhD (2021); Ludwig Maximilians University of Munich; Munich; Germany

PubMed=36476851; DOI=10.1016/j.celrep.2022.111761; PMCID=PMC10333306
Martin Franz Orth, Didier Surdez, Tobias Faehling, Anna C. Ehlers, Aruna Marchetto, Sandrine Grossetete-Lalami, Richard Volckmann, Danny A. Zwijnenburg, Julia Sophie Gerke, Sakina Zaidi, Javier Alonso ...Show all 25 authors... , Ana Sastre, Sylvain Baulande, Martin Sill, Florencia Cidre-Aranaz, Shunya Ohmura, Thomas Kirchner, Stefanie M. Hauck, Eva Reischl, Melissa Gymrek, Stefan Michael Pfister, Konstantin Strauch, Jan Koster, Olivier Delattre, Thomas Georg Philipp Grunewald; Show fewer authors
Systematic multi-omics cell line profiling uncovers principles of Ewing sarcoma fusion oncogene-mediated gene regulation.
Cell Rep. 41:111761.1-111761.28(2022)