Washington University School of Medicine, 660 S Euclid Avenue, St Louis, MO 63110, USA.
South Georgia Medical Center, 2409 North Patterson Street, Suite 210, Valdosta, GA 31605, USA.
Neurosurg Clin N Am. 2022 Jan;33(1):91-104. doi: 10.1016/j.nec.2021.09.007. Epub 2021 Oct 26.
There are multiple syndromes associated with tumors of the central nervous system (CNS). The most common CNS tumor syndrome is neurofibromatosis-1, with well-defined major and minor criteria needed for diagnosis. Other syndromes with variable degree of CNS and extra-CNS involvement that the neurosurgeon should be aware of include neurofibromatosis-2; Turcot syndrome; Cowden syndrome; Gorlin syndrome; Li-Fraumeni syndrome; ataxia-telangiectasia; multiple endocrine neoplasia type 1; von Hippel-Lindau syndrome; and tuberous sclerosis complex. Although most CNS tumor syndromes follow an autosomal dominant pattern of inheritance, the genetic underpinnings of each disease are complex and increasingly better understood.
中枢神经系统（CNS）肿瘤相关的综合征有多种。最常见的 CNS 肿瘤综合征是神经纤维瘤病-1，其诊断需要明确的主要和次要标准。其他伴有不同程度 CNS 和 CNS 外受累的综合征，神经外科医生也应该了解，包括神经纤维瘤病-2；Turcot 综合征；考登综合征；基底细胞痣综合征；李-法美尼综合征；共济失调-毛细血管扩张症；多发性内分泌肿瘤 1 型；von Hippel-Lindau 综合征；结节性硬化症。尽管大多数 CNS 肿瘤综合征呈常染色体显性遗传模式，但每种疾病的遗传基础都很复杂，并且越来越被深入了解。
