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神经纤维瘤病Ⅱ型(neurofibromatosis type 2,NF2)是由于抑癌基因NF2突变而导致的常染色体显性遗传的多发肿瘤综合征。神经纤维瘤病Ⅱ型以神经系统肿瘤、皮肤肿瘤和晶体损害为临床特征。临床表现为双侧听神经瘤、脑膜瘤、脊髓肿瘤、周围神经肿瘤,白内障也很常见。NF2基因定位于染色体22q12.2,编码的蛋白质称为merlin(moesin-ezrin-radixin like protean)或schwannomin。异常的merlin影响体内的促有丝分裂途径导致肿瘤的发生。本文就其病变的分子遗传研究进展进行综述。
Neurofibromatosis type 2 (NF2) is an autosomal dominant multiple tumor syndrome that results from mutations in the tumor suppressor gene NF2. Neurofibromatosis type II is characterized by neurological tumors, skin tumors, and lens damage. Clinical manifestations of bilateral acoustic neuroma, meningioma, spinal cord tumors, peripheral nerve tumors, cataracts are also common. The NF2 gene is located on chromosome 22q12.2 and encodes a protein called merlin (moesin-ezrin-radixin like protean) or schwannomin. Abnormal merlin affects the body’s mitogenic pathway leading to tumors. This article reviews the progress of molecular genetic research on its lesions.