• 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
Dauphinot L., De Oliveira C., Melot T., Sevenet N., Thomas V., Weissman B.E., Delattre O.
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
Tirode F., Surdez D., Ma X.-T., Parker M., Le Deley M.-C., Bahrami A., Zhang Z.-J., Lapouble E., Grossetete-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-Berard P., Gut I.G., Downing J.R., Dyer M.A., Zhang J.-H., Delattre O.
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
Orth M.F.
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
Orth M.F., Surdez D., Faehling T., Ehlers A.C., Marchetto A., Grossetete-Lalami S., Volckmann R., Zwijnenburg D.A., Gerke J.S., Zaidi S., Alonso J., Sastre A., Baulande S., Sill M., Cidre-Aranaz F., Ohmura S., Kirchner T., Hauck S.M., Reischl E., Gymrek M., Pfister S.M., Strauch K., Koster J., Delattre O., Grunewald T.G.P.
Systematic multi-omics cell line profiling uncovers principles of Ewing sarcoma fusion oncogene-mediated gene regulation.
Cell Rep. 41:111761.1-111761.28(2022)