CORE--NEUROPATHOLOGY AND BRAIN TUMOR BANK

描述：核心有两个具体目标：1)提供神经病理学 核心，供对神经遗传学研究感兴趣的研究人员使用。这个 资源包括神经病理专业知识和神经系统肿瘤。 和组织库；该库以冰冻和固定的组织、肿瘤细胞系、 从肿瘤中提取的DNA和RNA，以及来自 遗传性神经系统肿瘤综合征患者(如NF1、NF2、TS)； 以及2)维护人类神经系统肿瘤的数据库，这些肿瘤已经被 通过多个实验室参数进行全面而统一的评估， 包括组织病理学、增殖标记和遗传分析。这 对脑肿瘤预后的分子相关性研究做出贡献 遗传性中枢神经系统肿瘤综合征、NF1、NF2和TS以及相同的肿瘤 零星发生；3)描述细胞和亚细胞的特征 NF2、TSC1和TSC2基因产物以及它们的定位 正常成人和发育中的各自新的相互作用蛋白 神经系统和神经系统肿瘤；4)分析人体组织 NF2和TS患者以及相应的散发性肿瘤(例如， 脑膜瘤、神经鞘瘤)，以阐明潜在的分子病理学 这些情况；以及5)提供神经病理学方面的专业知识 实验性基因治疗/基因的组织学评价和图像分析 分娩模型以及结节性硬化症的小鼠模型。

DESCRIPTION: The core has two specific aims: 1) To provide a neuropathology core for use by investigators interested in neurogenetics research. The resources include neuropathological expertise as well as a nervous system tumor and tissue bank; the bank features frozen and fixed tissues, tumor cell lines, DNA and RNA extracts from tumors, and constitutional tissue and DNA from patients with inherited nervous system tumor syndromes (e.g., NF1, NF2, TS); and 2) To maintain a data base of human nervous system tumors which have been thoroughly and uniformly evaluated by a number of laboratory parameters, including histopathology, proliferation markers, and genetic analyses. This contributes to studies of molecular correlates of brain tumor prognosis in the inherited CNS tumor syndromes, NF1, NF2 and TS, as well as the same tumors occurring sporadically; 3) To characterize the cellular and subcellular localization of the NF2, TSC1 and TSC2 gene products, as well as their respective novel interacting proteins, in the normal adult and developing nervous system and in nervous system tumors; 4) To analyze human tissues from patients with NF2 and TS, as well as the corresponding sporadic tumors (e.g. meningiomas, schwannomas), to elucidate the molecular pathology underlying these conditions; and 5) to provide neuropathological expertise in the histological evaluation and image analysis of experimental gene therapy/gene delivery models as well as mouse models of tuberous sclerosis.