神経線維腫症2型の分子生物学的背景

Molecular Biological Background of Neurofibromatosis Type 2

Point

・神経線維腫症2型（NF2）は両側の聴神経腫瘍，多発神経鞘腫，多発髄膜腫を特徴とした難治性疾患である．

・NF2の半数は家族性に発症することが知られており，常染色体顕性遺伝（優性遺伝）の遺伝形式をとり，患者はNF2遺伝子のgermline mutationを有する．

・NF2遺伝子のgermline mutationが認められない症例の大部分にNF2遺伝子の体細胞モザイクがかかわっていると考えられている．

・NF2遺伝子の遺伝子型は生命予後や機能予後と関連する．

　Neurofibromatosis type 2（NF2）is a hereditary tumor syndrome characterized by bilateral acoustic nerve tumors, multiple schwannomas, and multiple meningiomas. About half of the patients develop familial onset through an autosomal dominant mode of inheritance. The causative gene of NF2 is the NF2 gene, and those who have a germline mutation of the said gene invariably develop the disease. On the other hand, about half of NF2 patients are sporadic cases. It is thought that the somatic mosaic of the NF2 gene is involved in most of the sporadic cases, in which germline mutation of NF2 is not detected. It is becoming clear that the clinical features, such as the life and functional prognoses of NF2 patients, differ depending on the genotype of the causative gene.