NF1基因突变致儿童头颈部丛状神经纤维瘤及尼罗替尼治疗的研究进展  

Research progress of NF1 gene mutation induced plexiform neurofibroma of head and neck in children and its therapeutic effect on nilotinib

作　　者：沈晨凌[1,2] 陈佳瑞 王颖 叶斌[2] 向明亮 李晓艳 SHEN Chenling;CHEN Jiarui;WANG Ying;YE Bin;XIANG Mingliang;LI Xiaoyan(Shanghai Childrens Hospital/Shanghai Children’s Hospital,School of Medicine,Shanghai Jiao Tong University,Shanghai 200062,China;Ruijin Hospital,School of Medicine,Shanghai Jiao Tong University,Shanghai 200025,China)

机构地区：[1]上海市儿童医院,上海交通大学医学院附属儿童医院,上海200062 [2]上海交通大学医学院附属瑞金医院,上海200025

出　　处：《中国实用神经疾病杂志》2025年第1期99-103,共5页Chinese Journal of Practical Nervous Diseases

基　　金：上海交通大学“交大之星”计划医工交叉研究基金青年项目A类(编号:YG2019QNA02)。

摘　　要：神经纤维瘤病(NF)是一类罕见的常染色体显性遗传性疾病,主要分为1型神经纤维瘤病(NF1)、2型神经纤维瘤病(NF2)和施万细胞瘤病3种类型,其中NF1是由位于17号染色体上的NF1基因突变所致,占所有神经纤维瘤病的96%,发病率为1/3000~1/2600,多在儿童期发病,出现逐渐加重的疼痛、畸形,甚至毁容和运动障碍,可能造成终身认知障碍、学习障碍和社交功能受损,有些瘤灶还可出现恶变,有并发其他多种肿瘤的风险。尼罗替尼作为一种二代靶向药,也被称为第二代BCR-ABL酪氨酸激酶抑制剂。靶向药物是目前新兴的抗肿瘤治疗手段,作用原理主要是针对肿瘤细胞上的特异性靶点,杀死肿瘤细胞,对正常细胞影响较小。由于儿童丛状神经纤维瘤患者处于生长发育阶段,所以其诊断、治疗、随访较成人更为复杂,因此,研究者通过以上治疗经验及国内外相关文献的回顾有助于提高临床对该病的进一步认识。同时,对NF1基因突变致儿童头颈部丛状神经纤维瘤患者的治疗和管理需要团队的努力,包括医学专家和患儿,鉴于这种疾病的复杂性,开发有效的治疗方法同样需要跨学科的团队合作。在过去的数十年里,虽然在研究NF1方面取得进展,但这种疾病在未来一段时间内仍将是临床一大挑战。本研究在了解NF1的诊断、治疗及随访等基础上,针对NF1基因突变致儿童头颈部丛状神经纤维瘤及尼罗替尼治疗的研究进展作一综述。Neurofibromatosis(NF)is a rare autosomal dominant genetic disorder.It is mainly divided into three types:neurofibromatosis type 1(NF1),neurofibromatosis type 2(NF2)and Schwancytomatosis.Among them,NF1 is caused by the mutation of NF1 gene located on chromosome 17,accounting for 96%of all neurofibromatosis,the incidence of about 1/3000~1/2600,mostly in childhood onset,gradually worsening pain,deformity,even disfigurement and movement disorders,may cause lifelong cognitive impairment,learning disabilities and impaired social function.Some tumors can also become malignant and are at risk of concomitant with many other tumors.As a second-generation targeted drug,nilotinib is also known as the second-generation BCR-ABL tyrosine kinase inhibitor.Targeted drugs are currently emerging anti-tumor therapeutic means,the principle of action is mainly to target specific targets on tumor cells,kill tumor cells,and have relatively little impact on normal cells.Since children with plexiform neurofibroma are in the growth and development stage,their diagnosis,treatment and follow-up are more complicated than those of adults.Therefore,the above treatment experience and the review of relevant literature at home and abroad are helpful for clinicians to further understand this disease.At the same time,the treatment and management of children with NF1 gene mutation in the head and neck plexiform neurofibroma requires a team effort,including medical experts and children,given the complexity of this disease,the development of effective treatments also requires interdisciplinary cooperation and teamwork.While there have been amazing advances in understanding NF1 over the past few decades,the disease will remain a major clinical challenge for some time to come.On the basis of understanding the diagnosis,treatment and follow-up of NF1.This study reviewed the research progress of NF1 gene mutation in children’s head and neck plexiform neurofibromatosis and the therapeutic effect of nilotinib.

关 键 词：1型神经纤维瘤病 NF1基因 基因突变 儿童 头颈部 丛状神经纤维瘤 尼罗替尼 

分 类 号：R748[医药卫生—神经病学与精神病学]