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Complexity of PEComas: Diagnostic approach, molecular background, clinical management

Perivascular epithelioid cell neoplasms (PEComas) are a family of mesenchymal neoplasms with features of both melanotic and smooth muscle differentiation. PEComa morphology is highly variable and encompasses epithelioid to spindle cells often with clear cytoplasm and prominent nucleoli. Molecularly,...

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Bibliographic Details
Published in:Der Pathologe 2020-06, Vol.41 (Suppl 1), p.9-19
Main Authors: Utpatel, K., Calvisi, D. F., Köhler, G., Kühnel, T., Niesel, A., Verloh, N., Vogelhuber, M., Neu, R., Hosten, N., Schildhaus, H.-U., Dietmaier, W., Evert, M.
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Language:English
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Summary:Perivascular epithelioid cell neoplasms (PEComas) are a family of mesenchymal neoplasms with features of both melanotic and smooth muscle differentiation. PEComa morphology is highly variable and encompasses epithelioid to spindle cells often with clear cytoplasm and prominent nucleoli. Molecularly, most PEComas are defined by a loss of function of the TSC1/TSC2 complex. Additionally, a distinct small subset of PEComas harboring rearrangements of the TFE3 (Xp11) gene locus has been identified. By presenting a series of three case reports with distinct features, we demonstrate diagnostic pitfalls as well as the importance of molecular work-up of PEComas because of important therapeutic consequences.
ISSN:0172-8113
1432-1963
DOI:10.1007/s00292-019-0612-5