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Malignant TFE 3 ‐rearranged perivascular epithelioid cell neoplasm ( PEC oma) presenting as a subcutaneous mass
Author(s) -
Shon W.,
Kim J.,
Sukov W.,
Reith J.
Publication year - 2016
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/bjd.14173
Subject(s) - perivascular epithelioid cell , tfe3 , tuberous sclerosis , pathology , biology , mesenchymal stem cell , epithelioid cell , gene rearrangement , medicine , immunohistochemistry , gene , genetics , gene expression , promoter
Summary Perivascular epithelioid cell neoplasms ( PEC omas) are a group of mesenchymal tumours with concurrent melanocytic and myogenic differentiation. Although many cases are sporadic, PEC omas can be associated with tuberous sclerosis. A distinct subset of deep‐seated PEC omas has been shown to carry TFE 3 fusions. To our knowledge, this is the first reported case of primary subcutaneous malignant PEC oma with molecular confirmation of TFE 3 gene rearrangement.