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. Author manuscript; available in PMC: 2018 Jan 29.
Published in final edited form as: J Natl Compr Canc Netw. 2005 Mar;3(2):158–194.
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