Myxoid Liposarcoma : Molecular Pathogenesis
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Molecular Genetics: Both myxoid liposarcoma (LPS) and its higher-grade variant (previously called round cell LPS) harbor reciprocal translocation t(12;16)(q13;p11) resulting in FUS-DDIT3 fusion. DDIT3 is a transcription factor that blocks adipocyte terminal differentiation. In about 3% of myxoid LPS, there is translocation t(12;22)(q13;q13) and the partner gene for DDIT3 is EWSR1 instead of FUS. FUS-DDIT3 antibody is available for immunohistochemical detection. Additional genetic events in myxoid LPS include TERT promoter mutations (50% cases) and activating mutations in PI3K/mTOR pathway (25% cases).
Image source: Manuel Sanchez-Martin , Ines Gonzalez-Herrero , Isidro Sanchez-Garcia; Atlas of Genetics and Cytogenetics in Oncology and Haematology. Image used under: Creative Commons Attribution-NonCommercial No Derivative Works 2.0 France License.
Image source: Manuel Sanchez-Martin , Ines Gonzalez-Herrero , Isidro Sanchez-Garcia; Atlas of Genetics and Cytogenetics in Oncology and Haematology. Image used under: Creative Commons Attribution-NonCommercial No Derivative Works 2.0 France License.