EWSR1
MIM.133450 22q12
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Pathology
Fusion genes in Ewing family tumors (EFTs)
| EWSR1/FLI1 | t(11;22)(q24;q12) | EFT (Ewing Family Tumor) | |
| ERG/EWSR1 | t(21;22)(q22;q12) | EFT (Ewing Family Tumor) | |
| ETV1/EWSR1 | t(7;22)(p22;q12) | EFT (Ewing Family Tumor) | |
| E1AF/EWSR1 | t(17;22)(q12;q12) | EFT (Ewing Family Tumor) | |
| EWSR1/FEV | t(2;22)(q13;q12) | EFT (Ewing Family Tumor) | |
| ETV4/EWSR1 | t(17;22)(q12;q12) | EFT (Ewing Family Tumor) | |
| EWSR1/POU5F1 | t(6;22)(p21;q12) | EFT (Ewing Family Tumor) | 18212089 |
| EWSR1/SP3 fusion | t(2;22)(q31;q12) | EFT (Ewing Family Tumor) | 17690209 |
| EWSR1/ZNF278 | 22q12 rearrangement | EFT (Ewing Family Tumor) |
Fusion genes in other tumors
| ATF1/EWSR1 | t(12;22)(q13;q12) | malignant melanoma of soft parts (clear cell sarcoma) | |
| EWSR1/TEC | t(9;22)(q22;q12) | extraskeletal myxoid chondrosarcoma | |
| EWSR1/CHOP | t(12;22)(q13;q12) | myxoid liposarcoma | |
| EWSR1/WT1 | t(11;22) | desmoplastic small round cell tumor (DSRCT) | |
| EWSR1/SP3 fusion | 2q31 and 22q12 | undifferentiated small round cell sarcomas | 17690209 |
| EWSR1/ETV4 | t(17;22)(q12;q12) | undifferentiated sarcoma of infancy | 8834175 |
| EWSR1/ZNF384 (CIZ or NMP4) | t(12;22)(p13;q12) | acute myeloid leukemia | 12359745 |
| EWSR1/CREB1 | t(2;22)(q33;q12) | angiomatoid fibrous histiocytoma (AMFH) | 17724745 |
Other anomalies
deletion of the 3’ EWSR1 gene in Ewing sarcoma with a t(21;22)(q22;q12) (15899394)
References
Delattre O, Zucman J, Plougastel B, et al. Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours. Nature 1992;359:162-165.
Sorensen PH, Lessnick SL, Lopez-Terrada D, Liu XF, Triche TJ, Denny CT. A second Ewing’s sarcoma translocation, t(21;22), fuses the EWS gene to another ETS-family transcription factor, ERG. Nat Genet 1994;6:146-151.
Owen LA, Lessnick SL. Identification of target genes in their native cellular context: an analysis of EWS/FLI in Ewing’s sarcoma. Cell Cycle 2006;5:2049-2053.
Riggi N, Stamenkovic I. The biology of Ewing sarcoma. Cancer Lett 2007;254:1-10.
See also
EWSR1/ETSs fusion proteins (16202544)
References
Wang L, Bhargava R, Zheng T, Wexler L, Collins MH, Roulston D, Ladanyi M. Undifferentiated small round cell sarcomas with rare EWS gene fusions: identification of a novel EWS-SP3 fusion and of additional cases with the EWS-ETV1 and EWS-FEV fusions. J Mol Diagn. 2007 Sep;9(4):498-509. PMID: 17690209
Antonescu CR, Dal Cin P, Nafa K, Teot LA, Surti U, Fletcher CD, Ladanyi M. EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma. Genes Chromosomes Cancer. 2007 Aug 20; PMID: 17724745
Janknecht R. EWS-ETS oncoproteins: the linchpins of Ewing tumors.
Gene. 2005 Dec 19;363:1-14. PMID: 16202544
Li H, Watford W, Li C, Parmelee A, Bryant MA, Deng C, O’Shea J, Lee SB. Ewing sarcoma gene EWS is essential for meiosis and B lymphocyte development. J Clin Invest. 2007 May;117(5):1314-23. PMID: 17415412
Hallor KH, Mertens F, Jin Y, Meis-Kindblom JM, Kindblom LG, Behrendtz M, Kalen A, Mandahl N, Panagopoulos I. Fusion of the EWSR1 and ATF1 genes without expression of the MITF-M transcript in angiomatoid fibrous histiocytoma. Genes Chromosomes Cancer. 2005 Sep;44(1):97-102. PMID: 15884099
Lee J, Hopcus-Niccum DJ, Mulvihill JJ, Li S. Cytogenetic and molecular cytogenetic studies of a variant of t(21;22), ins(22;21)(q12;q21q22), with a deletion of the 3’ EWSR1 gene in a patient with Ewing sarcoma. Cancer Genet Cytogenet. 2005 Jun;159(2):177-80. PMID: 15899394
Martini A, La Starza R, Janssen H, Bilhou-Nabera C, Corveleyn A, Somers R, Aventin A, Foa R, Hagemeijer A, Mecucci C, Marynen P. Recurrent rearrangement of the Ewing’s sarcoma gene, EWSR1, or its homologue, TAF15, with the transcription factor CIZ/NMP4 in acute leukemia. Cancer Res. 2002 Oct 1;62(19):5408-12. PMID: 12359745
