1. Pigmented (melanotic) myoepithelial tumor of soft tissue with EWSR1-KLF17 fusion.
- Author
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Pižem J, Boštjančič E, Šekoranja D, Pleško J, and Živec K
- Subjects
- Gene Rearrangement, Humans, Male, Middle Aged, Myoepithelioma genetics, Myoepithelioma metabolism, Prognosis, Soft Tissue Neoplasms genetics, Soft Tissue Neoplasms metabolism, Melanins metabolism, Myoepithelioma pathology, Oncogene Proteins, Fusion genetics, RNA-Binding Protein EWS genetics, Soft Tissue Neoplasms pathology, Transcription Factors genetics
- Abstract
Myoepithelial tumors of soft tissue are rare, morphologically and biologically heterogeneous tumors. EWSR1 fusion is found in about half of the cases, followed by PLAG1 and FUS fusions. EWSR1-KLF17 fusion has so far been reported in one benign myoepithelial tumor. Using next generation sequencing we identified another myoepithelial tumor of soft tissue with EWSR1-KLF17 fusion, located on the foot in a 55-year-old male. It was composed predominantly of spindle cells with multiple small areas of epithelioid and multinucleated cells in myxohyaline stroma and areas of melanin pigment in the cytoplasm of tumor cells. The pigmented tumor cells were positive for HMB45 and, ultrastructurally, melanosomes were identified in their cytoplasm. Melanin production has not been previously documented in myoepithelial tumors of soft tissue. Our case extends the spectrum of myoepithelial tumors of soft tissue and emphasizes the importance of molecular characterization of fusions, including determination of fusion partners in myoepithelial tumors and their mimics., Competing Interests: Declaration of Competing Interest The authors declare that they have no conflict of interest., (Copyright © 2020. Published by Elsevier Inc.)
- Published
- 2020
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