Tibial perivascular epithelioid cell tumour (PEComa). A case report and literature review

Abstract

Introduction: Perivascular epithelioid cell (PEC) is a cell type constantly present in a group of tumours including angiomyolipoma (AML), clear-cell «sugar» tumour (CCST) of the lung and extrapulmonary sites, lymphangioleiomyomatosis (LAM), and clear-cell tumours of other anatomical sites. It has morphologic distinctive features: epithelioid appearance with a clear to granular cytoplasm, a round to oval, centrally located nucleus and an inconspicuous nucleolus. Immunohistochemically, PEC expresses myogenic and melanocytic markers. Eleven cases of primary bone PEComa presentation have been described since 2002.

Objective: To report a case of primary bone perivascular epithelioid cell tumour.

Case report: 24 year-old male presented with pain. X-ray revealed an osteolytic lesion at right proximal tibia with soft tissue extension. Evaluation of slides identified a bony perivascular epithelioid cell tumour without immunohistochemical study confirmation.

Results: Patient was treated by surgical excision and adjuvant chemotherapy (epirubicin/cysplatin). After two years of follow-up the patient remains disease free.

Conclusions: This is the first-case report in Latin America. Immunohistochemical stains were negative and we believe it may be due to non-described ethnic variations.

Keywords: Bone; Perivascular epithelioid cell tumour; Tibia; Tumor de células perivasculares epiteloides; Óseo.