Malignant   TFE 3 ‐rearranged perivascular epithelioid cell neoplasm ( PEC oma) presenting as a subcutaneous mass | Zendy

Shon W. | Zendy; Kim J. | Zendy; Sukov W. | Zendy; Reith J. | Zendy

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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.

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