| EWSR1 (22q12.2) / NR4A3 (9q22.33) | EWSR1 (22q12.2) / NR4A3 (9q31.1) | FUS (16p11.2) / NR4A3 (9q22.33) |
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FUS (16p11.2) / NR4A3 (9q31.1) | NR4A3 (9q22.33) / ABL2 (1q25.2) | NR4A3 (9q22.33) / EWSR1 (22q12.2) |
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NR4A3 (9q22.33) / TAF15 (17q12) | NR4A3 (9q22.33) / TCF12 (15q21.3) | NR4A3 (9q22.33) / TFG (3q12.2) |
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NR4A3 (9q31.1) / EWSR1 (22q12.2) | NR4A3 (9q31.1) / TAF15 (17q12) | STX17 (9q31.1) / NR4A3 (9q22.33) |
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TAF15 (17q12) / NR4A3 (9q22.33) | TAF15 (17q12) / NR4A3 (9q31.1) | TCF12 (15q21.3) / NR4A3 (9q22.33) |
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TCF12 (15q21.3) / NR4A3 (9q31.1) | TFG (3q12.2) / NR4A3 (9q22.33) | TFG (3q12.2) / NR4A3 (9q31.1) |
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Note | |
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Entity | Extraskeletal myxoid chondrosarcoma with t(9;22)(q22;q12). |
Disease | rare type of sarcoma (2.3% of all soft tissue sarcomas) characteristically involving the deep, soft tissues of the extremities; morphological resemblance to embryonic cartilage. |
Hybrid/Mutated Gene | EWSR1-TEC |
Abnormal Protein | N-terminal transactivation domain of EWSR1 fused to the entire TEC protein. |
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Entity | Extraskeletal myxoid chondrosarcoma with t(9;17)(q22;q11). |
Disease | rare type of sarcoma (2.3% of all soft tissue sarcomas) characteristically involving the deep, soft tissues of the extremities; morphological resemblance to embryonic cartilage. |
Hybrid/Mutated Gene | TAF2N-TEC |
Abnormal Protein | N-terminal transactivation domain of TAF2N fused to the entire TEC protein. |
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Entity | Extraskeletal myxoid chondrosarcoma with t(9;15)(q22;q21). |
Disease | rare type of sarcoma (2.3% of all soft tissue sarcomas) characteristically involving the deep, soft tissues of the extremities; morphological resemblance to embryonic cartilage. |
Hybrid/Mutated Gene | TCF12-TEC |
Abnormal Protein | N-terminal domain of TCF12 fused to the entire TEC protein; the N-terminal of TCF12 shows no sequence homology to the N-terminals of EWSR1 or TAF2N. |
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Identification of a novel fusion gene involving hTAFII68 and CHN from a t(9;17)(q22;q11.2) translocation in an extraskeletal myxoid chondrosarcoma. |
Attwooll C, Tariq M, Harris M, Coyne JD, Telford N, Varley JM |
Oncogene. 1999 ; 18 (52) : 7599-7601. |
PMID 10602520 |
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Fusion of the EWS gene to CHN, a member of the steroid/thyroid receptor gene superfamily, in a human myxoid chondrosarcoma. |
Clark J, Benjamin H, Gill S, Sidhar S, Goodwin G, Crew J, Gusterson BA, Shipley J, Cooper CS |
Oncogene. 1996 ; 12 (2) : 229-235. |
PMID 8570200 |
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The isolation and characterization of MINOR, a novel mitogen-inducible nuclear orphan receptor. |
Hedvat CV, Irving SG |
Molecular endocrinology (Baltimore, Md.). 1995 ; 9 (12) : 1692-1700. |
PMID 8614405 |
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The EWS/TEC fusion protein encoded by the t(9;22) chromosomal translocation in human chondrosarcomas is a highly potent transcriptional activator. |
Labelle Y, Bussières J, Courjal F, Goldring MB |
Oncogene. 1999 ; 18 (21) : 3303-3308. |
PMID 10359536 |
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Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation. |
Labelle Y, Zucman J, Stenman G, Kindblom LG, Knight J, Turc-Carel C, Dockhorn-Dworniczak B, Mandahl N, Desmaze C, Peter M |
Human molecular genetics. 1995 ; 4 (12) : 2219-2226. |
PMID 8634690 |
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The homeotic protein Six3 is a coactivator of the nuclear receptor NOR-1 and a corepressor of the fusion protein EWS/NOR-1 in human extraskeletal myxoid chondrosarcomas. |
Laflamme C, Filion C, Bridge JA, Ladanyi M, Goldring MB, Labelle Y |
Cancer research. 2003 ; 63 (2) : 449-454. |
PMID 12543801 |
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The AF2 domain of the orphan nuclear receptor TEC is essential for the transcriptional activity of the oncogenic fusion protein EWS/TEC. |
Maltais A, Filion C, Labelle Y |
Cancer letters. 2002 ; 183 (1) : 87-94. |
PMID 12049818 |
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Molecular cloning of a novel thyroid/steroid receptor superfamily gene from cultured rat neuronal cells. |
Ohkura N, Hijikuro M, Yamamoto A, Miki K |
Biochemical and biophysical research communications. 1994 ; 205 (3) : 1959-1965. |
PMID 7811288 |
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The EWS/NOR1 fusion gene product gains a novel activity affecting pre-mRNA splicing. |
Ohkura N, Yaguchi H, Tsukada T, Yamaguchi K |
The Journal of biological chemistry. 2002 ; 277 (1) : 535-543. |
PMID 11673470 |
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Fusion of the NH2-terminal domain of the basic helix-loop-helix protein TCF12 to TEC in extraskeletal myxoid chondrosarcoma with translocation t(9;15)(q22;q21). |
Sjögren H, Wedell B, Meis-Kindblom JM, Kindblom LG, Stenman G |
Cancer research. 2000 ; 60 (24) : 6832-6835. |
PMID 11156374 |
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