Neurofibromin, a tumor suppressor in the nervous system.
Neurofibromin, a tumor suppressor in the nervous system.
复制标题
DOI：
10.1006/excr.2000.5138
复制
发表时间：
2001-03
影响因子：
3.7
通讯作者：
Yuan Zhu;Luis F. Parada
中科院分区：
文献类型：
--
作者：
Yuan Zhu;Luis F. Parada
1型神经纤维瘤病是由德国医生Friedrich von Recklinghausen于1882年发现的[1]。NF 1是最常见的遗传性神经系统疾病之一，全世界大约每3500名新生儿就会出现一次新生突变[1]。两种主要的临床表现是沿着周围和视神经形成良性肿瘤（神经纤维瘤和胶质瘤）以及黑素细胞的异常分布（黑素斑）[1]。神经纤维瘤和牛奶咖啡斑都是神经嵴起源的异常。NF 1患者还具有其他临床症状的高发生率，包括虹膜中的错构瘤（Lisch结节）、大头畸形、身材矮小、癫痫发作和学习障碍。发生恶性肿瘤的风险增加，包括神经纤维肉瘤、星形细胞瘤、横纹肌肉瘤、嗜铬细胞瘤和青少年髓性白血病也是这种疾病的特征[1-3]。因此，NF 1被归类为家族性癌症综合征。虽然疾病的确诊率为100%，但NF 1患者的表型表达率是高度可变的。即使在同一个家庭的受影响成员之间，临床表现也有很大差异，他们可能携带相同的突变[1，2]。
Neurofibromatosis type 1 was identified by a German physician, Friedrich von Recklinghausen, in 1882 [1]. NF1 is one of the most common inherited neurological diseases, with de novo mutations appearing about once every 3500 births worldwide [1]. The two major clinical manifestations are the formation of benign tumors along peripheral and optic nerves (neurofibromas and gliomas) as well as abnormal distribution of melanocytes (cafe-au-lait spots)[1]. Both neurofibromas and café-au-lait spots are abnormalities of neural crest origin. NF1 patients also have high incidence of additional clinical symptoms including hamartomas in the iris (Lisch nodules), macrocephaly, short stature, seizures, and learning disabilities. An increased risk to develop malignant tumors, including neurofibrosarcomas, astrocytomas, rhabdomyosarcomas, pheochromocytomas, and juvenile myeloid leukemias is also a feature of this disease [1–3]. Therefore, NF1 is classified as a familial cancer syndrome. Although the disease penetrance is 100%, the expressivity of the phenotype among NF1 patients is highly variable. The clinical manifestations vary dramatically even among affected members of the same family, who presumably carry the same mutation [1, 2].