Successful treatment with the mTOR inhibitor everolimus in a patient with Perivascular epithelioid cell tumor

Perivascular epithelioid cell tumor (PEComa) is an extremely rare neoplasm that appears toarise most commonly at visceral (especially gastrointestinal and uterine), retroperitoneal, andabdominopelvic sites. Malignant PEComas exist but are very rare. These tumors represent afamily of mesenchymal neoplasms, mechanistically linked through activation of the mTORsignaling pathway. Metastatic PEComa is a rare form of sarcoma for which no effectivetherapy has been described previously and that has a uniformly fatal outcome. Although thereis no known effective therapy, the molecular pathophysiology of aberrant mTOR signalingprovides a scientific rationale to target this pathway therapeutically. The difficulty indetermining optimal therapy, owing to the sparse literature available, led us to present thiscase. On this basis, we report a case of metastatic retroperitoneal PEComa treated with anoral mTOR inhibitor, with everolimus achieving significant clinical response.

via World Journal of Surgical Oncology