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MIM.126337 12q13.1-q13.2

Thursday 3 June 2004

Myxoid liposarcoma with or without a round cell component is the most common subtype of liposarcoma.

The diagnosis of myxoid liposarcoma could be challenging with histology, as a variety of soft tissue tumors with myxoid change might mimic myxoid liposarcoma, especially on small biopsy tissues.

Chromosomal translocations of t(12,16) (q13;p11) and t(12;22) (q13;q12), rendering gene fusions of DDIT3 (previously CHOP) with FUS and EWSR1, have been found to be characteristic of myxoid liposarcoma, and were identifiable in more than 95% cases.

These genetic alterations, therefore, are ideal as molecular markers to facilitate the diagnosis of this type of tumor.

DDIT3 (12q13) dual-color break-apart rearrangement probe for fluorescence in situ hybridization has been commercially available. FISH with DDIT3 break-apart probe is a highly sensitive and specific assay for detection of DDIT3-associated gene fusions, and therefore is a valuable adjunct in diagnosis or differential diagnosis of myxoid liposarcoma. (22089349)


- TLS/CHOP fusion gene from t(12;16) in at least 95% of myxoid/round cell liposarcomas (MLS)

- rare EWS/CHOP fusion gene from t(12;22) in some cases of myxoid/round cell liposarcomas (MLS)


- DDIT3 Gene Break-apart as a Molecular Marker for Diagnosis of Myxoid Liposarcoma-Assay Validation and Clinical Experience. Narendra S, Valente A, Tull J, Zhang S. Diagn Mol Pathol. 2011 Dec;20(4):218-24. PMID: 22089349