Zusammenfassung
Perivascular epithelioid cell neoplasms (PEComas) are afamily 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 aloss of function of the TSC1/TSC2 complex. Additionally, adistinct ...
Zusammenfassung
Perivascular epithelioid cell neoplasms (PEComas) are afamily 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 aloss of function of the TSC1/TSC2 complex. Additionally, adistinct small subset of PEComas harboring rearrangements of the TFE3 (Xp11) gene locus has been identified. By presenting aseries 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.
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