Fibroma-like perivascular epithelioid cell tumor: a rare case in a long bone.

ABSTRACT

Fibroma-like perivascular epithelioid cell (PEComa) tumor is an extremely rare family of mesenchymal tumors composed of cells co-expressing melanocytic and myogenic markers. To date, 13 cases of primary bone PEComa have been reported in the literature and five reported fibroma-like PEComas were found in the soft tissues of patients with tuberous sclerosis (TSC). However, no fibroma-like PEComa has been reported in bone, either sporadic or TSC-associated. Here we report the case of a 22-year-old man with known TSC, who presented for evaluation of an asymptomatic mass in his left fibula diaphysis that had been present for 5 years. He had no activity-related pain, numbness, weakness, or limitations in range of motion. Both 3-T MRI and CT demonstrated a tumor originating from the midshaft middiaphyseal fibula. Axial T1-weighted and fat-saturated T2-weighted fast spin echo images showed a well-defined lesion in the fibula with extension into the surrounding soft tissues. Whole body bone scan was negative for metastasis using technetium-99m. Renal ultrasound was unremarkable with no evidence of angiomyolipoma. Histopathology demonstrated isolated spindle cells in a dense collagenous matrix. By immunohistochemical staining, tumor cells were positive for HMB-45 and MiTF and partially positive for alpha-smooth muscle actin supporting a diagnosis of fibroma-like PEComa of the midshaft fibula. Although fibroma-like PEComa of bone is very rare, a bone tumor in the setting of TSC should raise suspicion for the diagnosis, in particular if histology demonstrates rare epithelioid cells in a densely fibrotic stroma.