Abstract
Pleomorphic hyalinizing angiectatic tumor of soft parts is a benign soft tissue tumor of uncertain differentiation. It is considered related to hemosiderotic fibrolipomatous tumor.
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TGFBR3-MGEA5 fusion gene: TGFBR3 (transforming growth factor beta receptor 3) encodes a receptor which is a membrane proteoglycan that often functions as a co-receptor with other TGF-beta receptor superfamily members. MGEA5 (also known as OGA, O-GlcNAcase): the modification of cytoplasmic and nuclear proteins by O-linked N-acetylglucosamine (O-GlcNAc) addition and removal on serine and threonine residues is catalyzed by OGT (which adds O-GlcNAc) and MGEA5, a glycosidase that removes O-GlcNAc modifications.
Suggested Readings
Fletcher et al (2020) WHO classification of tumours of soft tissue and bone, 5th edn
Liu et al (2019) The t(1;10)(p22;q24) TGFBR3/MGEA5 translocation in pleomorphic hyalinizing angiectatic tumor, myxoinflammatory fibroblastic sarcoma, and hemosiderotic fibrolipomatous tumor. Arch Pathol Lab Med 143(2):212–221
Rougemont et al (2019) Targeted RNA-sequencing identifies FBXW4 instead of MGEA5 as fusion partner of TGFBR3 in pleomorphic hyalinizing angiectatic tumor. Virchows Arch 475(2):251–254
Rush et al (2018) Treatment modalities and outcomes of pleomorphic hyalinizing angiectatic tumor: a systematic review of the literature. Musculoskelet Surg 102(3):213–221
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Mocellin, S. (2021). Pleomorphic Hyalinizing Angiectatic Tumor. In: Soft Tissue Tumors . Springer, Cham. https://doi.org/10.1007/978-3-030-58710-9_204
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DOI: https://doi.org/10.1007/978-3-030-58710-9_204
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