Ausmus Gregory G, Piliang Melissa P, Bergfeld Wilma F, Goldblum John R
Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, USA.
J Cutan Pathol. 2007 Sep;34(9):726-30. doi: 10.1111/j.1600-0560.2006.00702.x.
Perineurioma is a rare benign soft-tissue tumor composed of cells showing differentiation toward the perineurial cells of the nerve sheath. Although mutations in the neurofibromatosis 2 (NF2) gene have been documented in this tumor, there is no known association between perineuriomas and type 1 or 2 NF.
This is the first report of a case of soft-tissue perineurioma occurring in a patient with NF1.
Histopathologic examination revealed a 2.0-cm well-circumscribed, spindle-cell neoplasm with slender, elongated, bipolar, wavy cytoplasmic processes and wavy, elongated nuclei in a hyalinized stroma with focal myxoid areas. The architecture was composed predominantly of short fascicles with areas exhibiting a storiform pattern. Immunohistochemistry showed positive labeling for epithelial membrane antigen (EMA) but no staining for S-100 and smooth muscle actin (SMA).
This case illustrates that perineurioma can occur in association with NF1. Perineuriomas can be confused with other spindle-cell neoplasms, and relevant features and immunohistochemistry of these lesions are outlined. The patient has not had a recurrence with limited follow-up.
神经束膜瘤是一种罕见的良性软组织肿瘤，由向神经鞘膜神经束膜细胞分化的细胞组成。尽管已证实在该肿瘤中存在神经纤维瘤病2（NF2）基因突变，但目前尚无神经束膜瘤与1型或2型神经纤维瘤病之间存在关联的报道。
本文首次报道了1例1型神经纤维瘤病（NF1）患者发生软组织神经束膜瘤的病例。
组织病理学检查显示，肿瘤为一个2.0 cm的边界清晰的梭形细胞瘤，具有细长、拉长的双极波浪状细胞质突起，细胞核呈波浪状、细长形，位于玻璃样变基质中，伴有局灶性黏液样区域。其结构主要由短束状结构组成，部分区域呈车轮状排列。免疫组织化学检查显示上皮膜抗原（EMA）呈阳性标记，但S-100和平滑肌肌动蛋白（SMA）无染色。
该病例表明神经束膜瘤可与NF1相关联。神经束膜瘤可能会与其他梭形细胞瘤相混淆，本文概述了这些病变的相关特征及免疫组织化学表现。该患者在有限的随访期内未复发。
