Hottinger Andreas F, Khakoo Yasmin
Hôpitaux Universitaire Genevois and Department of Oncology, University of Geneva, Geneva, Switzerland.
J Child Neurol. 2009 Dec;24(12):1526-35. doi: 10.1177/0883073809337539.
The majority of tumors of the nervous system are sporadic. However, a subset of patients with tumors and their families are predisposed to developing cancers of the central nervous system and other organs because of a germline mutation. In the last decade, many of the genes responsible for these typically autosomal dominant familial tumor syndromes have been identified. Additionally, our understanding of the mechanisms of carcinogenesis in these syndromes has increased, allowing for more targeted therapies for these patients as well as those with sporadic cancers. Because these patients present a unique set of issues regarding diagnosis and neurooncological management, the most common familial cancer syndromes involving the nervous system are reviewed: neurofibromatosis type 1 and 2; tuberous sclerosis complex; von Hippel Lindau, Li-Fraumeni, Gorlin, and Turcot syndrome.
大多数神经系统肿瘤是散发性的。然而,一部分患有肿瘤的患者及其家族由于种系突变而易于发生中枢神经系统和其他器官的癌症。在过去十年中,已经确定了许多导致这些典型常染色体显性遗传家族性肿瘤综合征的基因。此外,我们对这些综合征中致癌机制的理解有所增加,这使得针对这些患者以及散发性癌症患者的治疗更具针对性。由于这些患者在诊断和神经肿瘤管理方面存在一系列独特问题,本文将对最常见的累及神经系统的家族性癌症综合征进行综述:1型和2型神经纤维瘤病;结节性硬化症复合体;冯·希佩尔-林道病、李-佛美尼综合征、基底细胞痣综合征和Turcot综合征。