Review Article

Cytogenetics and Molecular Genetics of Myxoid Soft-Tissue Sarcomas

Table 1

Chromosomal alterations and related molecular events in myxoid soft-tissue sarcomas.

Tumor typeChromosomal alterationMolecular eventPrevalence

Myxoid/round cell liposarcomat(12; 16)(q13; p11)FUS-DDIT3>90%
t(12; 22)(q13; q12)EWSR1-DDIT3<5%
Low-grade fibromyxoid sarcomat(7; 16)(q32–34; p11)FUS-CREB3L2>95%
t(11; 16)(p11; p11)FUS-CREB3L1<5%
Extraskeletal myxoid chondrosarcomat(9; 22)(q22; q12)EWSR1-NR4A375%
t(9; 17)(q22; q11)TAF15-NR4A315%
t(9; 15)(q22; q21)TCF12-NR4A3<1%
t(3; 9)(q12; q22)TFG-NR4A3<1%
MyxofibrosarcomaComplex karyotypeNot knownNot applicable
Myxoinflammatory fibroblastic sarcomat(1; 10)(p22; q24)Deregulation of FGF8 and NPM3 Not applicable
Rearrangement of TGFBR3 and MGEA5 Not applicable
Myxoid dermatofibrosarcoma protuberanst(17; 22)(q22; q13)*COL1A1-PDGFB>90%

*Rearrangement also frequently seen as a ring chromosome.