Metastatic cardiac PEComa presenting as a hemorrhagic pleural effusion: Case presentation and review of literature

Abstract PEComas are a family of mesenchymal tumors with perivascular epithelioid cell (PEC) differentiation that show immunoreactivity for both melanocytic and smooth muscle markers. The most common site for PEComas is the abdominopelvic cavity, specifically retroperitoneal and uterine. Cardiac localization for PEComas is extremely rare and PEComas are rarely of malignant potential. We present the case of a metastatic PEComa of cardiac origin in a patient initially admitted with a hemorrhagic pleural effusion. The patient had metastatic pleural involvement, multiple pulmonary nodules as well as a splenic and right gluteal metastatic lesion. A biopsy of the right gluteal lesion was consistent with PEComa. Further analysis revealed a TFE3 gene rearrangement. The patient was treated with Sirolimus and is tolerating treatment well, two months later. The optimal management of cardiac PEComas is unclear in light of the rarity of this disease. Complete resection appears to be the only curative approach. However, if this is not feasible, systemic therapy is associated with a poor response and there is no prospective data to guide treatment. We therefore proceed to review the clinical presentation, diagnosis, and management of this rare entity, looking at prior cases of cardiac PEComas in the English literature.