Table 1.
Examples of chromosomal translocations and associated gene fusions most frequently detected in soft tissue sarcomas and mesenchymal tumors.
| Sarcoma Subtype | Translocation | Genes | Oncogenic Mechanism |
|---|---|---|---|
| Ewing sarcoma | t (11; 22) (q24; q12) | EWSR1, FLI1 | Transcription factor |
| t (21; 22) (q22; q12) | EWSR1, ERG | ||
| t (16; 21) (p11; q22) | FUS, ERG | ||
| DSRCT | t (11; 22) (p13; q12) | EWSR1, WT1 | Transcription factor |
| Alveolar rhabdomyosarcoma | t (2;13) (q35; q14) | PAX3, FOXO1 | Transcription factor |
| t (1; 13) (p36; q14) | PAX7, FOXO1 | ||
| Clear cell sarcoma | t (12; 22) (q13; q12) | EWSR1, ATF1 | Transcription factor |
| Extraskeletal myxoid chondrosarcoma | t (9; 22) (q22–31; q11–12) |
EWSR1, NR4A3 | Transcription factor |
| Myxoid liposarcoma | t (12; 22) (q13; q12) | EWSR1, CHOP | Transcription factor |
| t (12; 16) (q13; p11) | FUS, CHOP | ||
| Alveolar soft part sarcoma | t (X; 17) (p11.2; q25) | ASPL, TFE3 | Transcription factor |
| PEComa | Xp11 rearrangement | *, TFE3 | Transcription factor |
| Low grade fibromyxoid sarcoma | t (7; 16) (q33; p11) | FUS, CREB3L2 | Transcription factor |
| Sclerosing epithelioid fibrosarcoma | t (11; 22) (p11; q12) | EWSR1, CREB3L1 | Transcription factor |
| Low grade endometrial stromal tumor | t (7; 17) (p15; q21) | JAZF1, JJAZ1 | Transcription factor |
| Synovial sarcoma | t (X; 18) (p11; q11) | SYT, SSX1, SSX2, SSX4 | Chromatin remodeling |
| Congenital fibrosarcoma | t (12; 15) (p13; q25) | ETV6, NTRK3 | Tyrosine Kinase |
| Inflammatory myofibroblastic tumor | t (2; 19) (p23; p13.1) | TPM4, ALK | Tyrosine Kinase |
| t (1; 2) (q22–23; p23) | TPM3, ALK | ||
| Dermatofibrosarcoma protuberans | t (17; 22) (q22; q13) | COL1A1, PDGFβ | Growth Factor |
| PVNS/TGCT | t (1; 2) (p13; q37) | COL6A3, CSF1 | Growth Factor |
Abbreviations: DSRCT: desmoplastic small round cell tumor, PVNS/TGCT: pigmented villonodular synovitis/tenosynovial giant cell tumor. * Multiple gene partners.