TUMOR | ABERRATION | GENES INVOLVED |
---|---|---|
Malignant Round Cell Tumors | ||
Ewing's sarcoma/peripheral neuroectodermal tumor | t(11;22)(q24;q12) t(21;22)(q22;q12) other rare variants |
EWS-FLI1 EWS-ERG various |
Desmoplastic small round cell tumor | t(11;22)(p13;q12) | EWS-WT1 |
Embryonal rhabdomyosarcoma | Complex alterations | Unknown |
Alveolar rhabdomyosarcoma | t(2;13)(q35;q14) t(1;13)(p36;q14) |
PAX3-FKHR PAX7-FKHR |
| ||
Lipomatous Tumors | ||
Myxoid/round cell liposarcoma | t(12;16)(q13;p11) | TLS-CHOP |
Atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDLPS) | Supernumerary ring chromosomes; giant marker chromosomes | Amplification of region 12q14-15, including MDM2, CDK4, HMGA2, SAS, GL1 |
Dedifferentiated liposarcoma | Same as for ALT/WDLPS | Same as for ALT/WDLPS |
Pleomorphic liposarcoma | Complex alterations | Unknown |
| ||
Other Sarcomas | ||
Alveolar soft part sarcoma | der(17)(X;17)(p11;q25) | ASPL-TFE3 |
Angiomatoid fibrous histiocytoma | t(2;22)(q33;q12) t(12;16)(q13;p11) |
EWS-CREB1 TLS-ATF1 |
Clear cell sarcoma | t(12;22)(q13;q12) t(2;22)(q33;q12) |
EWS-ATF1 EWS-CREB1 |
Congenital/infantile – fibrosarcoma | t(12;15)(p13;q25) | ETV6-NTRK3 |
Dermatofibrosarcoma protuberans | t(17;22)(q22;q13) and derivative ring chromosomes | COL1A1-PDGFB |
Desmoid fibromatosis | Trisomy 8 or 20; loss of 5q | CTNNB1 or APC mutations |
Epithelioid sarcoma (proximal type) | Bi-allelic inactivation of 22q11.2 | INI1 |
Extrarenal rhabdoid tumor | Bi-allelic inactivation of 22q11.2 | INI1 |
Extraskeletal myxoid chondrosarcoma | Rearrangements of 9q22 | CHN |
Sporadic GIST Familial GIST (Carney-Stratakis syndrome) |
Activating kinase
mutations KREBS cycle mutation |
KIT or
PDGFRA SDH subunit mutations |
Inflammatory myofibroblastic tumor | Rearrangements of 2p23 | ALK |
Leiomyosarcoma | Complex alterations | Unknown |
Low-grade fibromyxoid sarcoma | t(7;16)(q34;p11) | TLS-BBF2H7 |
Malignant peripheral nerve sheath tumor | Complex alterations | Unknown |
Synovial sarcoma | t(X;18)(p11;q11) t(X;18)(p11;q11) |
SYT-SSX1 SYT-SSX2 |
Tenosynovial giant cell tumor/pigmented villonodular synovitis (TGCT/PVNS) | t(1;2)(p13;q35) | CSF1 |