Table 1.
Cancer-associated gene fusions in ESFTs and EWS Fusion Proteins (EFPs) related tumours. Presented are the Fusion genes (providing DNA-binding) of EAD (providing Trans-activation) in human cancer. EFPs and the tumors that they cause: Ewing's sarcoma, Desmoplastic Small Round Cell Tumor, Myxoid Liposarcoma, Extraskeletal Myxoid Chondrosarcoma, Malignant Melanoma of Soft Parts or Clear Cell Sarcoma, Acute leukaemia. The EAD contains a similar region of EWS in each case, including minimally the first seven exons of EWS. The EWS homologue translocated in Liposarcoma (TLS) provides the EAD. EWS fusion partners provide the DNA-binding domain of the EFP.
| Trans-activation | DNA-binding | Tumor | Karyotype |
|---|---|---|---|
| EAD | FLI-1 | Ewing's sarcoma family of tumours | t(11;22)(q24;q12) |
| EAD | ERG | Ewing's sarcoma family of tumours | t(21;22)(q22;q12) |
| EAD | ETV1 | Ewing's sarcoma family of tumours | t(7;22)(p22;q12) |
| EAD | ETV4/E1AF | Ewing's sarcoma family of tumours | t(17;22)(q12;q12) |
| EAD | FEV | Ewing's sarcoma family of tumours | t(2;22)(q33;q12) |
| EAD (TLS) | CHOP | Myxoid liposarcoma | t(12;22)(q13;q12) |
| EAD | ATF-1 | Malignant melanoma of soft parts/soft tissue clear cell sarcoma | t(12;22)(q13;q12) |
| EAD | WT1 | Desmoplastic small round cell tumour | t(11;22)(p13;q12) |
| EAD | ZSG | Small round cell sarcoma Ewing's sarcoma/PNET (rare) |
t(1;22)(p36.1;q12) |
| EAD | POU5F1 (OCT3/4) | Undifferentiated bone sarcoma | t(6;22)(p21;q12) |
| EAD | NR4A3 (CHN/TEC or NOR1) | Extraskeletal myxoid chondrosarcoma | t(9;22)(q22;q12) |
| EAD | CIZ/NMP4 ZNF384 |
Acute leukaemia | t(12;22)(p13;q12) |
| FUS (TLS) | CHOP | myxoid liposarcoma and round cell liposarcoma | t(12;16)(q13;p11) |
| EWSR1 | ATF1/CREB1 | Angiomatoid fibrous histiocytoma | t(2;22)(q33;q12) |
| EWSR1 | ERG | The Ewing sarcoma (ES) family of tumors | t(1;21;7)(q25;q22.3;q22) |
| EWSR1 | CREB1 | Angiomatoid fibrous histiocytoma clear cell sarcoma |
t(2;22)(q34;q12) |
| RBP56/hTAFII6 | CHN orphan nuclear receptor | Extraskeletal myxoid chondrosarcomas | t(9;17)(q22;q11.2) |
| EWSR1 | hSNF5/INI1 (SMARCB1) | Extrarenal rhabdoid tumors of soft tissue/cell soft tissue sarcomas | t(1;11)(q12;q25) |
| EWSR1 or Not identified | Not identified or Fli-1 |
EWS/PNET Soft tissue sarcoma |
t(18;19)(q23;q13.2) |
| EWS | UQCRH | small round cell sarcoma | t(1;22)(p34;q12) |
| EWSR1 | NFATC2 | (ES/PNET) | t(20;22)(q13;q12) |