Loss of chromosome 13 in a case of soft tissue perineurioma

Soft tissue perineuriomas are rare mesenchymal tumors that are derived from perineurial cells of the peripheral nerve sheath. Although the histological and immunohistochemical features of soft tissue perineuriomas are well described, little is known regarding the cytogenetic abnormalities in these tumors. Herein, we describe a case of a large (12.2 cm) soft tissue perineurioma that arose in the thigh of a 26-year-old Caucasian female. Histologically, the tumor was composed of a diffuse to fascicular arrangement of spindle cells with bland, elongated nuclei with long, thin, tapering cytoplasmic processes. The immunohistochemical profile was consistent with a perineurial cell origin with expression of epithelial membrane antigen, vimentin, and collagen type IV. Cytogenetic evaluation revealed loss of chromosome 13 as the sole abnormality in the majority of examined cells. In contrast to previous reports, we were unable to demonstrate deletion or structural abnormalities of chromosome 22 by either fluorescence in situ hybridization (FISH) or metaphase cytogenetics. This is the first report of loss of chromosome 13 in soft tissue perineurioma. Although never described in this group of neoplasms, loss of chromosome 13 has been identified in a large number of other soft tissue tumors, particularly sarcomas and malignant peripheral nerve sheath tumors. Herein, we discuss this case and provide a review of the literature.