Low-grade malignant perineurioma (perineurial sarcoma) of soft tissue: a potential diagnostic pitfall on fine needle aspiration

A case of low-grade malignant perineurioma presenting as a mass in the thigh is described. The patient was a 76-year-old woman with an enlarging painful mass on her right lateral thigh over the past 2 months. Thorough clinical and radiological studies did not reveal any evidence of tumor elsewhere. The patient underwent fine needle aspiration of the mass, which revealed pleomorphic spindle cells in small clusters or dispersed as single cells within myxoid stroma, cytologically consistent with a high-grade sarcoma. At surgery, the tumor was found to be entirely confined within the muscle. Grossly, the tumor measured 6.5 cm in greatest diameter and showed a gray-white fleshy cut surface that was well circumscribed but unencapsulated. Histologic examination showed a highly cellular spindle cell proliferation embedded within myxoid stroma. The tumor cells showed mild to moderate nuclear pleomorphism with minimal mitotic activity. No evidence of hemorrhage or necrosis was noted. The tumor irregularly invaded the surrounding skeletal muscle. Immunohistochemical studies showed weak membranous positivity for epithelial membrane antigen and focal cytoplasmic positivity for CD34; stains for smooth muscle actin, cytokeratin AE1/AE3, desmin, CD56, H-caldesmon, calponin, and S-100 protein were negative. Electron microscopy showed cells with thin, elongated cytoplasmic processes extending along connective tissue in a parallel, onion-like arrangement and prominent subplasmalemmal pinocytotic activity. The marked pleomorphism displayed on fine needle aspiration observed in this case can lead to a mistaken diagnosis of high-grade sarcoma resulting in unnecessarily aggressive management.