Table 4. Translocations and other genetic alterations in less common mediastinal sarcomas.
| Tumor type | Genetic abnormality | Gene fusion or amplification product |
|---|---|---|
| Low-grade fibromyxoid sarcoma | t(7;16)(q32-33;p11), t(11;16)(p11;p11) | FUS-CREB3L2, FUS-CREB3L1 |
| Myxoid/round cell Liposarcoma |
t(12;16)(q13;p11), t(12;22)(q13;q12) | FUS-DDIT3, EWSR1-DDIT3 |
| Alveolar soft part sarcoma | t(X;17)(p11;q25) | ASPCR1-TFE3 |
| Translocation associated small round blue cell sarcomas | t(4;19)(q35;q13), t(10;19)(q26;q13), paracentric inv(X)(p11.4p11.22) | CIC-DUX4, CIC-DUX4, BCOR-CCNB3 |
| Extrarenal rhabdoid tumor | Loss of SMARCB1 (INI1) secondary to biallelic loss of function mutations or heterozygous mutations in subunits of the SWI/SNF (BAF) complex | |
| Alveolar rhabdomyosarcoma | t(2;13)(q35;q14), t(1;13)(p36;q14), t(2;2)(q35;p23), t(2;8)(q35;q13) | PAX3-FOXO1, PAX7-FOXO1, PAX3-NCOA1, PAX3-NCOA2 |
| Embryonal rhabdomyosarcoma | Loss of heterozygosity on 11p15.5 | |
| Epithelioid hemangioendothelioma | t(1;3)(p36;q25), t(X;11)(q22;p11) | WWTR1-CAMTA1, YAP1-TFE3 |
| Epithelioid sarcoma | Loss of SMARCB1 (INI1) secondary to biallelic loss of function mutations or heterozygous mutations in subunits of the SWI/SNF (BAF) complex | |
| Extraskeletal myxoid chondrosarcoma | t(9;22)(q22;q12), t(9;17)(q22;q11), t(9;15)(q22;q21) | EWSR1-NR4A3, TAF15-NR4A3, TCF12-NR4A3 |
| Chondrosarcoma | Somatic point mutations in IDH1 and IDH2 | |
| Mesenchymal chondrosarcoma | Del(8)(q13.3;q21.1), t(1;5)(q24;q32) | HEY1-NCOA2, IRF2BP2-CDX1 |
| Osteosarcoma | Complex karyotypes with numerous structural changes reported and multiple types of mutations across many genes | |
| Follicular dendritic cell sarcoma | Often complex karyotypes, loss of function alterations in NFKBIA, CYLD, CDKN2A, RB1, CD274, PDCD1LG2 and BRAF V600E mutations | Small subset with MDM2 amplification |
| Undifferentiated pleomorphic sarcoma | Rare targetable fusions identified in some cases, complex karyotypes, mutations in TP53, ATRX, RB1, however no recurrent genetic abnormalities |