| Entity | 1- Ewing tumours with: t(11;22)(q24;q12) --> FLI1 - EWSR1 |
| Disease | Ewing tumours: including Ewing's Sarcoma and peripheral primitive neuroectodermal tumour. |
| Cytogenetics | t(11;22)(q24;q12) is found in 85% of cases of Ewing tumours. |
| Hybrid/Mutated Gene | 5' EWS - 3' FLI1; breakpoints clustered over a 2-3 kb genomic region and over a 30-40 kb genomic region. |
| Abnormal Protein | oncogenic protein on the der(22) chromosome generated by fusion of the N terminal domain of EWS protein with DNA binding domain of human FLI1 protein. |
| Oncogenesis | EWS -FLI1 is a dominant oncogene transformed cells by subverting normal transcriptional controls/FLI1 member of ETS family. |
| | |
| Entity | Ewing tumours with t(21;22)(q21;q12) --> ERG - EWSR1 |
| Disease | Ewing tumours (Ewing's Sarcoma and peripheral primitive neuroectodermal tumour). |
| Hybrid/Mutated Gene | 5' EWS - 3' ERG; the orientation of the ERG gene might by from telomere to centromere, opposite to that demonstrated for EWS. |
| Abnormal Protein | oncogenic protein on the der(22) chromosome generated by fusion of the N terminal domain of EWS protein with DNA binding domain of human ERG protein. |
| | |
| Entity | Ewing tumours with t(7;22)(p22;q12) --> ETV1 - EWSR1 |
| Disease | Ewing tumours (Ewing's Sarcoma and peripheral primitive neuroectodermal tumour). |
| Hybrid/Mutated Gene | 5' EWS - 3' ETV1 |
| | |
| Entity | Ewing tumours with t(17;22)(q12;q12) --> E1AF - EWSR1 |
| Disease | Ewing tumours (Ewing's Sarcoma and peripheral primitive neuroectodermal tumour). |
| Hybrid/Mutated Gene | 5' EWS - 3' E1AF |
| | |
| Entity | 2- t(11;22)(p13;q12) / Intra abdominal desmoplastic small round cell sarcoma (IADSRCT) --> WT1 - EWSR1 |
| Hybrid/Mutated Gene | 5' EWS - 3' WT1; breakpoints: between EWS exons 7 and 8 and between WT1 exons 7 and 8 |
| Abnormal Protein | transcription activator. |
| | |
| Entity | 3- t(12;22)(q13;q12) / malignant melanoma of soft parts--> ATF1 - EWSR1 |
| Hybrid/Mutated Gene | 5' EWS - 3' ATF-1 |
| Abnormal Protein | N terminal domain of EWS fused to the bZIP domain of ATF1 |
| | |
| Entity | 4- t(9;22)(q22;q12) / Myxoid Chondrosarcoma--> TEC - EWSR1 |
| Hybrid/Mutated Gene | 5' EWS - 3' TEC (or CHN); the EWS/CHN gene fusion was not detected in any of the remaining cases suggesting genetic heterogeneite within extraskeletal myxoid chondrosarcomas with t(9;17)(q22;q11) |
| | |
| Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours. |
| Delattre O, Zucman J, Plougastel B, Desmaze C, Melot T, Peter M, Kovar H, Joubert I, de Jong P, Rouleau G |
| Nature. 1992 ; 359 (6391) : 162-165. |
| PMID 1522903 |
| |
| EWS and ATF-1 gene fusion induced by t(12;22) translocation in malignant melanoma of soft parts. |
| Zucman J, Delattre O, Desmaze C, Epstein AL, Stenman G, Speleman F, Fletchers CD, Aurias A, Thomas G |
| Nature genetics. 1993 ; 4 (4) : 341-345. |
| PMID 8401579 |
| |
| DNA-binding and transcriptional activation properties of the EWS-FLI-1 fusion protein resulting from the t(11;22) translocation in Ewing sarcoma. |
| Bailly RA, Bosselut R, Zucman J, Cormier F, Delattre O, Roussel M, Thomas G, Ghysdael J |
| Molecular and cellular biology. 1994 ; 14 (5) : 3230-3241. |
| PMID 8164678 |
| |
| Genetic alterations in the chromosome 22q12 region associated with development of neuroectodermal tumors. |
| Thomas G, Delattre O, Zucman J, Merel P, Desmaze C, Melot T, Sanson M, Hoang-Xuan K, Plougastel B, Dejong P |
| Cold Spring Harbor symposia on quantitative biology. 1994 ; 59 : 555-564. |
| PMID 7587112 |
| |
| Characterization of the genomic breakpoint and chimeric transcripts in the EWS-WT1 gene fusion of desmoplastic small round cell tumor. |
| Gerald WL, Rosai J, Ladanyi M |
| Proceedings of the National Academy of Sciences of the United States of America. 1995 ; 92 (4) : 1028-1032. |
| PMID 7862627 |
| |
| A variant Ewing's sarcoma translocation (7;22) fuses the EWS gene to the ETS gene ETV1. |
| Jeon IS, Davis JN, Braun BS, Sublett JE, Roussel MF, Denny CT, Shapiro DN |
| Oncogene. 1995 ; 10 (6) : 1229-1234. |
| PMID 7700648 |
| |
| 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 |
| |
| Fusion of the EWS1 and WT1 genes as a result of the t(11;22)(p13;q12) translocation in desmoplastic small round cell tumors. |
| Benjamin LE, Fredericks WJ, Barr FG, Rauscher FJ 3rd |
| Medical and pediatric oncology. 1996 ; 27 (5) : 434-439. |
| PMID 8827070 |
| |
| An EWS/ERG fusion with a truncated N-terminal domain of EWS in a Ewing's tumor. |
| Peter M, Mugneret F, Aurias A, Thomas G, Magdelenat H, Delattre O |
| International journal of cancer. Journal international du cancer. 1996 ; 67 (3) : 339-342. |
| PMID 8707406 |
| |
| A novel chimera gene between EWS and E1A-F, encoding the adenovirus E1A enhancer-binding protein, in extraosseous Ewing's sarcoma. |
| Urano F, Umezawa A, Hong W, Kikuchi H, Hata J |
| Biochemical and biophysical research communications. 1996 ; 219 (2) : 608-612. |
| PMID 8605035 |
| |
| Molecular analysis of the fusion of EWS to an orphan nuclear receptor gene in extraskeletal myxoid chondrosarcoma. |
| Brody RI, Ueda T, Hamelin A, Jhanwar SC, Bridge JA, Healey JH, Huvos AG, Gerald WL, Ladanyi M |
| The American journal of pathology. 1997 ; 150 (3) : 1049-1058. |
| PMID 9060841 |
| |
| Multiple chromosomal mechanisms generate an EWS/FLI1 or an EWS/ERG fusion gene in Ewing tumors. |
| Desmaze C, Brizard F, Turc-Carel C, Melot T, Delattre O, Thomas G, Aurias A |
| Cancer genetics and cytogenetics. 1997 ; 97 (1) : 12-19. |
| PMID 9242212 |
| |
| Multiple chromosomal mechanisms generate an EWS/FLI1 or an EWS/ERG fusion gene in Ewing tumors. |
| Desmaze C, Brizard F, Turc-Carel C, Melot T, Delattre O, Thomas G, Aurias A |
| Cancer genetics and cytogenetics. 1997 ; 97 (1) : 12-19. |
| PMID 9242212 |
| |
| Multiple chromosomal mechanisms generate an EWS/FLI1 or an EWS/ERG fusion gene in Ewing tumors. |
| Desmaze C, Brizard F, Turc-Carel C, Melot T, Delattre O, Thomas G, Aurias A |
| Cancer genetics and cytogenetics. 1997 ; 97 (1) : 12-19. |
| PMID 9242212 |
| |
