Lubensky I A, Pack S, Ault D, Vortmeyer A O, Libutti S K, Choyke P L, Walther M M, Linehan W M, Zhuang Z
Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Am J Pathol. 1998 Jul;153(1):223-31. doi: 10.1016/S0002-9440(10)65563-0.
Although pancreatic neuroendocrine tumors (NETs) in von Hippel-Lindau (VHL) disease have been reported, their pathological features have not been characterized. In addition, it is unknown whether alterations of the VHL gene are responsible for pancreatic NET development. To evaluate NETs in VHL patients, we performed histopathological analysis of 30 pancreatic tumors in 14 patients. In addition, DNA from NETs and normal pancreatic tissue from 6 patients with documented germ-line VHL gene mutations was studied for allelic deletions of the second copy of the VHL gene by fluorescence in situ hybridization and polymerase chain reaction-based single-strand conformational polymorphism analysis. Morphologically, the tumors were characterized by solid, trabecular, and/or glandular architecture and prominent stromal collagen bands. Sixty percent of the tumors revealed at least focally clear-cell cytology. All tumors were positive for panendocrine immunohistochemistry markers (chromogranin A and/or synaptophysin); 35% of NETs demonstrated focal positivity for pancreatic polypeptide, somatostatin, insulin, and/or glucagon; and no immunostaining for pancreatic and gastrointestinal hormones was observed in 65% of tumors. Dense core neurosecretory granules were evident by electron microscopic examination, and the clear cells additionally revealed abundant intracytoplasmic lipid. All NETs that were subjected to genetic analysis showed allelic loss of the second copy of the VHL gene. We conclude that multiple, nonfunctional pancreatic NETs occur in VHL patients. Stromal collagen bands and clear-cell morphology are important histological features of VHL-associated NETs. The presence of allelic deletions of the VHL gene in pancreatic NETs provides direct molecular evidence for a role of the gene in their tumorigenesis and establishes NET as an independent tumor type of VHL disease.
尽管已有报道称冯·希佩尔-林道(VHL)病患者存在胰腺神经内分泌肿瘤(NETs),但其病理特征尚未明确。此外,VHL基因的改变是否与胰腺NET的发生有关尚不清楚。为了评估VHL患者的NETs,我们对14例患者的30个胰腺肿瘤进行了组织病理学分析。此外,通过荧光原位杂交和基于聚合酶链反应的单链构象多态性分析,对6例记录有生殖系VHL基因突变患者的NETs和正常胰腺组织的DNA进行了研究,以检测VHL基因第二个拷贝的等位基因缺失情况。从形态学上看,肿瘤的特征为实性、小梁状和/或腺泡状结构以及明显的间质胶原带。60%的肿瘤至少在局部显示透明细胞细胞学特征。所有肿瘤的全内分泌免疫组化标志物(嗜铬粒蛋白A和/或突触素)均呈阳性;35%的NETs对胰多肽、生长抑素、胰岛素和/或胰高血糖素呈局灶性阳性;65%的肿瘤未观察到胰腺和胃肠激素的免疫染色。电子显微镜检查显示有密集核心神经分泌颗粒,透明细胞还显示胞质内有丰富的脂质。所有接受基因分析的NETs均显示VHL基因第二个拷贝的等位基因缺失。我们得出结论,VHL患者会出现多个无功能的胰腺NETs。间质胶原带和透明细胞形态是VHL相关NETs的重要组织学特征。胰腺NETs中VHL基因等位基因缺失的存在为该基因在其肿瘤发生中的作用提供了直接的分子证据,并将NET确立为VHL病的一种独立肿瘤类型。