Translocation | Genes | Type of fusion gene |
Ewing sarcoma (OMIM#133450) | ||
t(11;22)(q24;q12) | EWSR1::FLI1 | Transcription factor |
t(21;22)(q22;q12) | EWSR1::ERG | Transcription factor |
t(7;22)(p22;q12) | EWSR1::ETV1 | Transcription factor |
t(17;22)(q12;q12) | EWSR1::ETV4 | Transcription factor |
t(2;22)(q35;q12) | EWSR1::FEV | Transcription factor |
t(2;16)(q35;p11) | FUS::FEV | Transcription factor |
t(16;21)(p11;q24) | FUS::ERG | Transcription factor |
Undifferentiated round cell sarcoma with BCOR- or CIC-rearrangements[1] (OMIM#300485, #612082, #606009) | ||
t(X;X)(p11;p11) | BCOR::CCNB3 | Cell cycle progression |
t(4;19)(q35;q13) or t(10;19)(q26;q13)[1] | CIC::DUX4 | Transcription factor |
Clear cell sarcoma (OMIM#123803) | ||
t(12;22)(q13;q12) | EWSR1::ATF1 | Transcription factor |
Desmoplastic small round cell tumor of the abdomen (OMIM#133450) | ||
t(11;22)(p13;q12) | EWSR1::WT1 | Transcription factor |
Extraskeletal myxoid chondrosarcoma (OMIM#600542) | ||
t(9;22)(q22-31;q11-12) | EWSR1::NR4A3 | Transcription factor |
Myxoid liposarcoma (OMIM#126337, #137070) | ||
t(12;16)(q13;p11) | FUS::DDIT3 (FUS::CHOP) | Transcription factor |
t(12;22)(q13;q12) | EWSR1::CHOP (EWSR1::DDIT3) | Transcription factor |
Alveolar rhabdomyosarcoma (OMIM#268220) | ||
t(2;13)(q35;q14) | PAX3::FOXO1A* | Transcription factor |
t(1;13)(p36;q14) | PAX7::FOXO1A* | Transcription factor |
Congenital infantile spindle cell rhabdomyosarcoma | ||
t(6;6)(q24.1;q22.1) | VGLL2::CITED2 | Transcription factor |
t(6;8)(q22.1;q13.3) | VGLL2::NCOA2 | Transcription factor |
t(11;8)(p15.3;q13.3) | TEAD1::NCOA2 | Transcription factor |
t(2;8)(q36;q13.3) | PAX3::NCOA2 | Transcription factor |
t(6;8)(p21.1;q13.3) | SRF::NCOA2 | Transcription factor |
Synovial sarcoma (OMIM#312820) | ||
t(X;18)(p11;q11) | SS18::SSX1, SSX2, or SSX4 | Remodels chromatin to alter transcription |
Dermatofibrosarcoma protuberans (OMIM#607907) | ||
t(17;22)(q22;q13) | COL1A1::PDGFB | Growth factor |
Congenital fibrosarcoma (OMIM#191316) | ||
t(12;15)(p13;q25) | ETV6::NTRK3 | Transcription factor receptor |
Inflammatory myofibroblastic tumor | ||
2p23 rearrangements | TMP3::ALK | Growth factor receptor |
TMP4::ALK | Growth factor receptor | |
Alveolar soft part sarcoma (OMIM#606243) | ||
t(X;17)(p11.2;q25) | ASPL::TFE3 | Transcription factor |
Solitary fibrous tumor (OMIM#602381) | ||
Inversion 12q13 | NAB2::STAT6 | Transcription factor |
Epithelioid hemangioendothelioma | ||
t(1;3)(p36;q25) | WWTR1::CAMTA1 | Transcription factor |
OMIM: Online Mendelian Inheritance in Man, available at http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim.
* FOXO1A gene, also known as the FKHR gene.Adapted with permission from: Helman LJ, Meltzer P. Mechanisms of sarcoma development. Nature Reviews: Cancer 2003; 3:685. Copyright © 2003 MacMillan Magazines Ltd.