神经纤维瘤病2型(NF2)为遗传性疾病,其致病机制复杂,主要为NF2基因突变致Merlin肿瘤抑制作用失调。临床表型可分为Wishart型和Gardner型,表现多样,轻重程度不一。NF2突变形式包括无义突变、剪切位点突变等,各具不同特点,但与表型无明确关系。目前,基因检测技术敏感性不断提高和NF2动物模型研究促进靶向药物开发,更有利于干预NF2疾病的发展。NF2疾病的发病机制和治疗有待进一步研究。 Neurofibromatosis type 2 (NF2) is a hereditary disease with a complex pathogenic mechanism that is predominantly dysregulated in the Merlin tumor caused by mutations in the NF2 gene. Clinical phenotypes can be divided into Wishart type and Gardner type, the performance of diverse, varying degrees of severity. NF2 mutations include nonsense mutations, cleavage site mutations, each with different characteristics, but no clear relationship with the phenotype. At present, the increasing sensitivity of genetic testing techniques and NF2 animal model research to promote targeted drug development, more conducive to intervene in the development of NF2 disease. NF2 disease pathogenesis and treatment needs further study.