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Extraskeletal myxoid chondrosarcoma

Disease ID:340
Name:Extraskeletal myxoid chondrosarcoma
Associated with:1 target
Database Links
Disease Ontology: DOID:6496
OMIM: 612237
Orphanet: ORPHA209916


Neuron-derived orphan receptor 1
Role:  Three different versions of extraskeletal myxoid chondrosarcomas (EMCs) are the result of reciprocal translocations between this gene and other genes.
Comments:  The translocation breakpoints are associated with Nuclear Receptor Subfamily 4, Group A, Member 3 (on chromosome 9) and either Ewing Sarcome Breakpoint Region 1 (on chromosome 22), RNA Polymerase II, TATA Box-Binding Protein-Associated Factor, 68-KD (on chromosome 17), or Transcription factor 12 (on chromosome 15).
References:  1-4


No ligand related data available for Extraskeletal myxoid chondrosarcoma


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1. Clark J, Benjamin H, Gill S, Sidhar S, Goodwin G, Crew J, Gusterson BA, Shipley J, Cooper CS. (1996) Fusion of the EWS gene to CHN, a member of the steroid/thyroid receptor gene superfamily, in a human myxoid chondrosarcoma. Oncogene, 12 (2): 229-35. [PMID:8570200]

2. Gill S, McManus AP, Crew AJ, Benjamin H, Sheer D, Gusterson BA, Pinkerton CR, Patel K, Cooper CS, Shipley JM. (1995) Fusion of the EWS gene to a DNA segment from 9q22-31 in a human myxoid chondrosarcoma. Genes Chromosomes Cancer, 12 (4): 307-10. [PMID:7539287]

3. Labelle Y, Bussières J, Courjal F, Goldring MB. (1999) The EWS/TEC fusion protein encoded by the t(9;22) chromosomal translocation in human chondrosarcomas is a highly potent transcriptional activator. Oncogene, 18 (21): 3303-8. [PMID:10359536]

4. Labelle Y, Zucman J, Stenman G, Kindblom LG, Knight J, Turc-Carel C, Dockhorn-Dworniczak B, Mandahl N, Desmaze C, Peter M. (1995) Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation. Hum. Mol. Genet., 4 (12): 2219-26. [PMID:8634690]