Table 3.
Characteristic and variant chromosomal translocations and associated fusion genes in bone and soft tissue sarcomas
| Neoplasm | Translocation | Fusion gene(s) |
|---|---|---|
| Alveolar soft part sarcomaa | der(17)t(X;17)(p11.2;q25.3) | ASPL/TFE3 |
| Alveolar rhabdomyosarcoma | t(2;13)(q35;q14) | PAX3/FOXOIb |
| t(1;13)(p36;q14) | PAX7/FOXO1 | |
| t(X;2)(q13;q35) | PAX3/AFX | |
| t(2;2)(q35;p23) | PAX3/NCOA1 | |
| Angiomatoid fibrous histiocytoma | t(2;22)(q34;q12) | EWS/CREB1 |
| t(12;22)(q13;q12) | EWS/ATFI | |
| t(12;16)(q13;p11) | FUS/ATF1 | |
| Clear cell sarcoma | t(12;22)(q13;q12) | EWS/ATF1 |
| t(2;22)(q34;q12) | EWS/CREB1 | |
| Congenital fibrosarcoma | t(12;15)(p13;q25) | ETV6/NTRK3 |
| Dermatofibrosarcoma protuberans | t(17;22)(q22;q13) | COL1A1/PDGFB |
| Desmoplastic small round cell tumor | t(11;22)(p13;q12) | EWS/WT1 |
| Epithelioid hemangioendothelioma | t(1;3)(p36;q25) | ? |
| Ewing sarcoma/pPNET | t(11;22)(q24;q12) | EWS/FLII |
| t(21;22)(q22;q12) | EWS/ERG | |
| t(7;22)(q22;q12) | EWS/ETV1 | |
| t(17;22)(q21;q12) | EWS/EIAF | |
| t(2;22)(q33;q12) | EWS/FEV | |
| inv(22)(q12q12) | EWS/ZSG | |
| t(16;21)(p11;q22) | FUS/ERG | |
| Extraskeletal myxoid chondrosarcoma | t(9;22)(q22;q12) | EWS/NR4A3c |
| t(9;17)(q22;q11) | RBP56d/NR4A3c | |
| t(9;15)(q22;q21) | TCF12/NR4A3c | |
| t(3;9)(q11–12;q22) | TFG/NR4A3c | |
| Inflammatory myofibroblastic tumor | t(1;2)(q22;p23) | TPM3/ALK |
| t(2;19)(p23;p13) | TPM4/ALK | |
| t(2;17)(p23;q23) | CLTC/ALK | |
| t(2;2)(p23;q13) | RANBP2/ALK | |
| Low-grade fibromyxoid sarcoma | t(7;16)(q33;p11) | FUSe/CREB3L2 |
| t(11;16)(p11;p11) | FUS/CREB3L1 | |
| Myxoid/round cell liposarcoma | t(12;16)(q13;p11) | FUSe/CHOPf |
| t(12;22)(q13;q12) | EWS/CHOPf | |
| Pericytoma | t(7;12)(p22;q13) | AGTB/GLI |
| Synovial sarcoma | t(X;18)(p11.2;q11.2) | SS18g/SSXI |
| SS18/SSX2 | ||
| t(X;20)(p11.2;q13.3) | SS18/SSX4 | |
| SS18L1/SSX1 |
pPNET, peripheral primitive neuroectodermal tumor
a A balanced form of this translocation is seen also in a subset of pediatric renal neoplasms
b Also referred to as FKHR
c Also referred to as TEC, MINOR, CHN, and NOR-1
d Also referred to as TAF2N
e Also referred to as TLS
f Also referred to as DDIT3
g Also referred to as SYT