In vitro studies of steroid receptors in NF1

神经纤维瘤病I型(NF1)是一种常见的显性疾病，其特征是神经脊来源的细胞，包括神经纤维瘤中的雪旺细胞(被认为是克隆性成分)的异常增殖。目前神经纤维瘤的治疗方法是手术，这通常是不够的。神经纤维瘤通常在青春期和怀孕期间加重，表明对类固醇激素的敏感性改变。NF1患者和他们的医生担心，当面临节育、更年期或疾病治疗的激素治疗决定时，这种可能的相关性。为了验证这一假说，我们将通过RT-PCR/Western印迹和免疫荧光分别检测培养的NF1肿瘤雪旺细胞和正常雪旺细胞中激素受体的类型、相对数量和定位。为了研究这些受体的功能作用，将检测肿瘤培养物对这些激素的反应是否促进了增殖和/或存活。据信是类固醇激素下游靶点的基因的表达也将被分析。这些研究将确定激素在神经纤维瘤发展中的作用，允许做出更有教育意义的医疗决策，并确定抑制肿瘤发展的潜在靶点。

Neurofibromatosis type I (NF1), a common dominant condition, is characterized by abnormal proliferation of neural crest derived cells, including Schwann cells (thought to be the clonal element) in neurofibromas. The current therapy for neurofibromas is surgery, which is usually insufficient. Neurofibromas are often aggravated during puberty and pregnancy, suggesting an altered sensitivity to steroid hormones. NF1 patients and their physicians worry about this possible correlation when faced with decisions about hormone therapies for birth control, menopause, or disease treatments. To investigate this hypothesis, the type, relative quantity and localization of hormone receptors present in NF1 tumor Schwann cell cultures compared to normal Schwann cells will be measured through RT-PCR/Western blot and immunofluorescence, respectively. To investigate the functional role of these receptors, the tumor cultures will be assayed for increased proliferation and/or survival in response to these hormones. Expression of genes believed to be downstream targets of steroid hormones will also be analyzed. These studies will characterize the role of hormones in neurofibroma development, allowing for more educated medical decisions, as well as identifying potential targets for inhibiting tumor development.