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MIM.600542 9q22

Tuesday 24 August 2004


- Fusion proteins in myxoid chondrosarcoma

- both SS18-SSX2 and EWSR1-NR4A3 (exon 3) gene fusions in combined synovial sarcoma and extraskeletal myxoid chondrosarcoma (22743288)

- The EWSR1/NOR-1 fusion protein is encoded by the t(9;22) chromosomal translocation found in approximately 75% of extraskeletal myxoid chondrosarcoma (EMC) tumors.


- A novel sarcoma with dual differentiation: clinicopathologic and molecular characterization of a combined synovial sarcoma and extraskeletal myxoid chondrosarcoma. Vergara-Lluri ME, Stohr BA, Puligandla B, Brenholz P, Horvai AE. Am J Surg Pathol. 2012 Jul;36(7):1093-8. PMID: 22743288

- Filion C, Labelle Y. The oncogenic fusion protein EWS/NOR-1 induces transformation of CFK2 chondrogenic cells. Exp Cell Res. 2004 Jul 15;297(2):585-92. PMID: 15212958

- Panagopoulos I, Mertens F, Isaksson M, Domanski HA, Brosjo O, Heim S, Bjerkehagen B, Sciot R, Dal Cin P, Fletcher JA, Fletcher CD, Mandahl N. Molecular genetic characterization of the EWS/CHN and RBP56/CHN fusion genes in extraskeletal myxoid chondrosarcoma. Genes Chromosomes Cancer. 2002 Dec;35(4):340-52. PMID: 12378528

- Clark, J.; Benjamin, H.; Gill, S.; Sidhar, S.; Goodwin, G.; Crew, J.; Gusterson, B. A.; Shipley, J.; Cooper, C. S. : Fusion of the EWS gene to CHN, a member of the steroid/thyroid receptor gene superfamily, in a human myxoid chondrosarcoma. Oncogene 12: 229-235, 1996. PubMed ID : 8570200