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 1/3 000～1/2 600,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
Key words
NF1/NF1 gene/Gene mutation/Children/Head and neck/Plexiform neurofibroma/Nilotinib
维普
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