Maillet-Vioud M, Narod S, Assouline D, Sobol H, Fischer G, Robert J M, Lenoir G M
Centre International de Recherche sur le Cancer, Lyon.
Rev Neurol (Paris). 1991;147(10):644-52.
Two forms of neurofibromatosis are currently described. Von Reckinghausen Neurofibromatosis (NF 1) is the classic and common form, recently localised to chromosome 17. Neurofibromatosis type 2 (NF 2) or bilateral acoustic Neurofibromatosis, formerly the "central form" of von Reckinghausen disease, is characterized by multiple brain tumors, most often bilateral acoustic neuromas. The NF 2 mutation lies on the long arm of chromosome 22. The two forms predispose to benign or malignant familial tumors, derived from neural crest germ lines, such as Schwann cells. Rapid progress in the understanding of mechanisms underlying neurological tumor formation is expected in these inherited diseases. Molecular biology will allow the precise identification of genes responsible for the neurofibromatose syndromes. Practical applications, such as screening of individuals at risk for the disease will soon be available. Medical follow-up and genetic counselling should improve as a result of these advances.
目前已描述了两种形式的神经纤维瘤病。冯·雷克林豪森神经纤维瘤病（NF 1）是典型且常见的形式，最近已定位到17号染色体。2型神经纤维瘤病（NF 2）或双侧听神经神经纤维瘤病，以前是冯·雷克林豪森病的“中枢型”，其特征是多发性脑肿瘤，最常见的是双侧听神经瘤。NF 2突变位于22号染色体的长臂上。这两种形式易患源自神经嵴种系的良性或恶性家族性肿瘤，如施万细胞。预计在这些遗传性疾病中，对神经肿瘤形成机制的理解将取得快速进展。分子生物学将使负责神经纤维瘤病综合征的基因得以精确识别。诸如对疾病高危个体进行筛查等实际应用很快就会出现。由于这些进展，医学随访和遗传咨询应该会得到改善。
