Kazakov Dmitry V, Pitha Jan, Sima Radek, Vanecek Tomas, Shelekhova Ksenia, Mukensnabl Petr, Michal Michal
Sikl's Department of Pathology, Charles University, Medical Faculty Hospital, 30460 Pilsen, Czech Republic.
Ann Diagn Pathol. 2005 Feb;9(1):16-23. doi: 10.1016/j.anndiagpath.2004.12.001.
We present three cases of subcutaneous tumors with hybrid features of schwannoma-perineurioma (one case) and neurofibroma-perineurioma (two cases), which occurred in two women aged 50 and 52 years and one man aged 52. Locations included the scapular area, skin overlying breast and knee area. The tumors were 1.5, 4 and 5 cm in largest diameter. None of the patients had signs of neurofibromatosis. All tumors were surgically removed, and patients remained disease-free for 1 to 4 years. The classification of the lesion into schwannoma-perineurioma and neurofibroma-perineurioma rested on histopathological and immunohistochemical findings. An ultrastructural study was performed in one case of neurofibroma-perineurioma. All cases were studied for mutation of the NF2 gene, and in one case (neurofibroma-perineurioma) a point mutation was detected in exon 15 of the gene.
我们报告了3例具有神经鞘瘤-神经束膜瘤混合特征(1例)和神经纤维瘤-神经束膜瘤混合特征(2例)的皮下肿瘤病例,这些病例分别发生在2名50岁和52岁的女性以及1名52岁的男性身上。肿瘤位置包括肩胛区、乳房上方皮肤和膝部区域。肿瘤最大直径分别为1.5厘米、4厘米和5厘米。所有患者均无神经纤维瘤病体征。所有肿瘤均通过手术切除,患者在1至4年内无疾病复发。病变分类为神经鞘瘤-神经束膜瘤和神经纤维瘤-神经束膜瘤基于组织病理学和免疫组化结果。对1例神经纤维瘤-神经束膜瘤病例进行了超微结构研究。对所有病例均进行了NF2基因突变检测,其中1例(神经纤维瘤-神经束膜瘤)在该基因第15外显子检测到一个点突变。