• Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Homozygous (PubMed=19787792; PubMed=25223734).
  
• Gene fusion; HGNC; HGNC:3508; EWSR1 + HGNC; HGNC:3749; FLI1; Name(s)=EWSR1-FLI1, EWS-FLI1; Note=Type 1 fusion (Ex7/Ex6) (PubMed=9393981).
  
• Mutation; HGNC; HGNC:11998; TP53; None_reported; -; Zygosity=- (PubMed=19787792).
  

PubMed=8378080
Kovar H., Auinger A., Jug G., Aryee D.N.T., Zoubek A., Salzer-Kuntschik M., Gadner H.
Narrow spectrum of infrequent p53 mutations and absence of MDM2 amplification in Ewing tumours.
Oncogene 8:2683-2690(1993)

PubMed=9393981; DOI=10.1038/sj.onc.1201397
Kovar H., Jug G., Aryee D.N.T., Zoubek A., Ambros P.F., Gruber B., Windhager R., Gadner H.
Among genes involved in the RB dependent cell cycle regulatory cascade, the p16 tumor suppressor gene is frequently lost in the Ewing family of tumors.
Oncogene 15:2225-2232(1997)

PubMed=15150091; DOI=10.1158/0008-5472.CAN-03-0809
Schaefer K.-L., Brachwitz K., Wai D.H., Braun Y., Diallo R., Korsching E., Eisenacher M., Voss R., van Valen F., Baer C., Selle B., Spahn L., Liao S.-K., Lee K.A.W., Hogendoorn P.C.W., Reifenberger G., Gabbert H.E., Poremba C.
Expression profiling of t(12;22) positive clear cell sarcoma of soft tissue cell lines reveals characteristic up-regulation of potential new marker genes including ERBB3.
Cancer Res. 64:3395-3405(2004)

PubMed=19787792; DOI=10.1002/gcc.20717
Ottaviano L., Schaefer K.-L., Gajewski M., Huckenbeck W., Baldus S.E., Rogel U., Mackintosh C., de Alava E., Myklebost O., Kresse S.H., Meza-Zepeda L.A., Serra M., Cleton-Jansen A.-M., Hogendoorn P.C.W., Buerger H., Aigner T., Gabbert H.E., Poremba C.
Molecular characterization of commonly used cell lines for bone tumor research: a trans-European EuroBoNet effort.
Genes Chromosomes Cancer 49:40-51(2010)

PubMed=21822310; DOI=10.1038/onc.2011.317
Mackintosh C., Ordonez J.L., Garcia-Dominguez D.J., Sevillano V., Llombart-Bosch A., Szuhai K., Scotlandi K., Alberghini M., Sciot R., Sinnaeve F., Hogendoorn P.C.W., Picci P., Knuutila S., Dirksen U., Debiec-Rychter M., Schaefer K.-L., de Alava E.
1q gain and CDT2 overexpression underlie an aggressive and highly proliferative form of Ewing sarcoma.
Oncogene 31:1287-1298(2012)

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)

PubMed=26428435; DOI=10.1016/j.ejca.2015.08.020
Sand L.G.L., Scotlandi K., Berghuis D., Snaar-Jagalska B.E., Picci P., Schmidt T., Szuhai K., Hogendoorn P.C.W.
CXCL14, CXCR7 expression and CXCR4 splice variant ratio associate with survival and metastases in Ewing sarcoma patients.
Eur. J. Cancer 51:2624-2633(2015)