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Cutaneous PEC oma does not harbour TFE 3 gene fusions: immunohistochemical and molecular study of 17 cases
Author(s) -
LlamasVelasco Mar,
Mentzel Thomas,
Requena Luis,
Palmedo Gabriele,
Kasten Robert,
Kutzner Heinz
Publication year - 2013
Publication title -
histopathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.626
H-Index - 124
eISSN - 1365-2559
pISSN - 0309-0167
DOI - 10.1111/his.12145
Subject(s) - immunohistochemistry , pathology , cell , biology , downregulation and upregulation , gene , medicine , genetics
Aims The family of perivascular epithelioid cell tumours ( PEC omas) comprises a related group of mesenchymal tumours of uncertain origin that show both smooth muscle and melanocytic differentiation markers. TFE 3 nuclear immunoreactivity may be viewed as a supporting marker, as it has been found in a subset of visceral PEC omas. We immunohistochemically analysed 17 cases of primary cutaneous PEC omas for TFE 3, and five of them also for SOX ‐10, and also analysed them by FISH for TFE 3 rearrangement. Methods and results PEC omas presented as skin‐coloured tumours, in 12 women and five men, with a median age of 49.5 years. Tumours showed either a mixed clear cell–epithelioid cell pattern or a monomorphous clear cell pattern. None of the primary cutaneous PEC omas showed detectable TFE 3 or SOX ‐10 positivity. FISH assay for TFE 3 rearrangement yielded negative results in all of the tested tumours. Conclusions Cutaneous PEC omas are mostly composed of clear cells, and, unlike a subset of visceral and deep‐seated PEC omas, cutaneous PEC omas consistently lack TFE 3 expression. Owing to the lack of SOX ‐10 expression, a neural crest origin could not be shown.