Myxoid liposarcomas are the second-most common type ofliposarcoma, representing 30–40% of all liposarcomas in the limbs, occurring most commonly in the legs, particularly the thigh, followed by the buttocks, retroperitoneum, trunk, ankle, proximal limb girdle, head and neck, and wrist. They occur in the intermuscularfascial planes or deep-seated areas. They present as a large, slow-growing, painless mass.[2]
The neoplastic cells in these neoplasms containchromosomal translocations which create one of twofusion genes: theFUS-DDIT3 in ~90% and theEWSR1-DDIT3 fusion gene in up to 10% of myxoid liposarcoma cases.[3] TheFUS-DDIT3 fusion gene forms by a merger of part of theFUSFET gene family gene normally located atband 11.2 on theshort (or "p") arm ofchromosome 16 with part of theDDIT3ETS transcription factor family gene normally located at band 13.3 on the long (or "q") arm ofchromosome 12. This fusion gene is notated as t(12;16)(q13;p11).[4][5]Preclinical studies, i.e. laboratory studies, suggest that theFUS-DDIT3 fusion gene may act as anoncogene to promote the development of myxoid liposarmas.[6] TheEWSR1-DDIT3 fusion gene forms by a merger of theEWSR1 FET gene family gene located at band 12.2 on the q arm ofchromosome 22 with part of theDDIT3 gene. This fusion gene is notated as t(12;22)(q13;12).[7][8][9]
^Aman P, Ron D, Mandahl N, et al. (1993). "Rearrangement of the transcription factor gene CHOP in myxoid liposarcomas with t(12;16)(q13;p11)".Genes Chromosomes Cancer.5 (4):278–85.doi:10.1002/gcc.2870050403.PMID1283316.S2CID1998665.
^Göransson M, Andersson MK, Forni C, et al. (January 2009). "The myxoid liposarcoma FUS-DDIT3 fusion oncoprotein deregulates NF-kappaB target genes by interaction with NFKBIZ".Oncogene.28 (2):270–8.doi:10.1038/onc.2008.378.PMID18850010.
^Rabbitts TH, Forster A, Larson R, Nathan P (1993). "Fusion of the dominant negative transcription regulator CHOP with a novel gene FUS by translocation t(12;16) in malignant liposarcoma".Nat. Genet.4 (2):175–80.doi:10.1038/ng0693-175.PMID7503811.S2CID5964293.
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