Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
Endocr Pathol. 2013 Sep;24(3):149-55. doi: 10.1007/s12022-013-9254-y.
Pituicytoma is a rare low-grade (WHO grade I) sellar region glioma. Among sellar tumors, pituitary adenomas, mainly prolactinomas, may show amyloid deposits. Gelsolin is a ubiquitous calcium-dependent protein that regulates actin filament dynamics. Two known gene point mutations result in gelsolin amyloid deposition, a characteristic feature of a rare type of familial amyloid polyneuropathy (FAP), the Finnish-type FAP, or hereditary gelsolin amyloidosis (HGA). HGA is an autosomal-dominant systemic amyloidosis, characterized by slowly progressive neurological deterioration with corneal lattice dystrophy, cranial neuropathy, and cutis laxa. A unique case of pituicytoma with marked gelsolin amyloid deposition in a 67-year-old Chinese woman is described. MRI revealed a 2.6-cm well-circumscribed, uniformly contrast-enhancing solid sellar mass with suprasellar extension. Histologically, the lesion was characterized by solid sheets and fascicles of spindle cells with slightly fibrillary cytoplasm and oval nuclei with pinpoint nucleoli. Surrounding brain parenchyma showed marked reactive piloid gliosis. Remarkably, conspicuous amyloid deposits were identified as pink homogeneous spherules on light microscopy that showed apple-green birefringence on Congo red with polarization. Mass spectrometric-based proteomic analysis identified the amyloid as gelsolin type. Immunohistochemically, diffuse reactivity to S100 protein and TTF1, focal reactivity for GFAP, and no reactivity to EMA, synaptophysin, and chromogranin were observed. HGA-related mutations were not identified in the tumor. No recurrence was noted 14 months after surgery. To the knowledge of the authors, amyloid deposition in pituicytoma or tumor-associated gelsolin amyloidosis has not been previously described. This novel finding expands the spectrum of sellar tumors that may be associated with amyloid deposition.
垂体细胞瘤是一种罕见的低级(WHO 分级 I)鞍区神经胶质瘤。在鞍区肿瘤中,主要是催乳素腺瘤的垂体腺瘤可能会出现淀粉样沉积物。凝溶胶蛋白是一种普遍存在的钙依赖性蛋白,可调节肌动蛋白丝的动态。两种已知的基因突变导致凝溶胶蛋白淀粉样沉积,这是一种罕见的家族性淀粉样多发性神经病(FAP)、芬兰型 FAP 或遗传性凝溶胶蛋白淀粉样变性(HGA)的特征。HGA 是一种常染色体显性系统性淀粉样变性,其特征为进行性神经功能恶化,伴有角膜格子状营养不良、颅神经病变和皮肤松弛。本文描述了一例 67 岁中国女性垂体细胞瘤伴有明显凝溶胶蛋白淀粉样沉积的独特病例。MRI 显示 2.6cm 边界清楚的、均匀增强的实性鞍区肿块,伴鞍上延伸。组织学上,病变特征为梭形细胞实性片状和束状,细胞质略带纤维状,细胞核呈椭圆形,核仁针尖状。周围脑组织显示明显的反应性胶质增生。值得注意的是,在光镜下,明显的淀粉样沉积物被鉴定为粉红色均质球体,在刚果红偏振下显示出苹果绿双折射。基于质谱的蛋白质组分析鉴定淀粉样沉积物为凝溶胶蛋白类型。免疫组化显示 S100 蛋白和 TTF1 弥漫性反应,GFAP 局灶性反应,EMA、突触素和嗜铬粒蛋白无反应。在肿瘤中未发现 HGA 相关突变。手术后 14 个月无复发。据作者所知,垂体细胞瘤或肿瘤相关凝溶胶蛋白淀粉样变性中的淀粉样沉积以前尚未描述过。这一新发现扩展了可能与淀粉样沉积相关的鞍区肿瘤谱。