title: Malignant TFE3-rearranged perivascular epithelioid cell neoplasm (PEComa) presenting as a subcutaneous mass.
abstract: Perivascular epithelioid cell neoplasms (PEComas) are a group of mesenchymal tumours with concurrent melanocytic and myogenic differentiation. Although many cases are sporadic, PEComas can be associated with tuberous sclerosis. A distinct subset of deep-seated PEComas has been shown to carry TFE3 fusions. To our knowledge, this is the first reported case of primary subcutaneous malignant PEComa with molecular confirmation of TFE3 gene rearrangement.
authors.affiliation: Pathology, Immunology and Laboratory Medicine, University of Florida College of Medicine, 4800 SW 35th Drive, PO Box 100275, Gainesville, FL, 32610, U.S.A.
authors.forename: W
authors.initials: W
authors.lastname: Shon
authors.affiliation: Pathology, Immunology and Laboratory Medicine, University of Florida College of Medicine, 4800 SW 35th Drive, PO Box 100275, Gainesville, FL, 32610, U.S.A.
authors.forename: J
authors.initials: J
authors.lastname: Kim
authors.affiliation: Laboratory of Medicine and Pathology, Mayo Clinic, 200 1st Street, Rochester, MN 55905, U.S.A.
authors.forename: W
authors.initials: W
authors.lastname: Sukov
authors.affiliation: Pathology, Immunology and Laboratory Medicine, University of Florida College of Medicine, 4800 SW 35th Drive, PO Box 100275, Gainesville, FL, 32610, U.S.A.
authors.forename: J
authors.initials: J
authors.lastname: Reith
mesh_terms: D000328:Adult; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics*; D002081:Buttocks; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics; D006801:Humans; D019042:Muscle Neoplasms / Q000175:diagnosis / Q000235:genetics*; D054973:Perivascular Epithelioid Cell Neoplasms / Q000175:diagnosis / Q000235:genetics*; D013848:Thigh
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; C069203:TFE3 protein, human