Hottinger Andreas F, Khakoo Yasmin
Department of Neurology, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10021, USA.
Curr Neurol Neurosci Rep. 2007 May;7(3):200-7. doi: 10.1007/s11910-007-0031-5.
Hereditary central nervous tumor syndromes are a varied group of conditions that include neurofibromatosis type 1 and 2, tuberous sclerosis, Von Hippel-Lindau disease, and Cowden, Turcot, and Gorlin syndromes. The responsible genes have been identified in most of these disorders. These genes typically act as tumor suppressor genes, maintain normal cellular function and homeostasis, and regulate cell growth and differentiation. Familial central nervous system tumors are mostly inherited as autosomal dominant traits and involve germline mutations. Neoplastic development occurs when a somatic mutation inactivates the second allele. These patients also present unique challenges for their management. This review highlights the clinical manifestations, molecular genetics, pathophysiology, and current treatment options of these disorders with a focus on neuro-oncologic manifestations of the diseases.
遗传性中枢神经系统肿瘤综合征是一组多样的病症，包括1型和2型神经纤维瘤病、结节性硬化症、冯·希佩尔-林道病以及考登综合征、图尔科特综合征和戈林综合征。在大多数这些疾病中，相关基因已被确定。这些基因通常起肿瘤抑制基因的作用，维持正常细胞功能和体内平衡，并调节细胞生长和分化。家族性中枢神经系统肿瘤大多作为常染色体显性性状遗传，涉及种系突变。当体细胞突变使第二个等位基因失活时，肿瘤就会发生。这些患者的治疗也面临独特的挑战。本综述重点介绍这些疾病的临床表现、分子遗传学、病理生理学和当前的治疗选择，重点关注这些疾病的神经肿瘤学表现。
