[Progress in diagnosis and treatment of neurofibromatosis in children]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022 Jun;36(6):477-482. doi: 10.13201/j.issn.2096-7993.2022.06.015.
[Article in Chinese]

Abstract
in English, Chinese

Neurofibromatosis type 1（NF1） is an autosomal dominant genetic disease in which a mutation in the NF1 gene on chromosome 17q11.2 results in inactivation or down-regulation of neurofibromin. This results in a series of neurocutaneous lesions characterized by neurofibromatosis. Patients with plexiform neurofibromas（PN）, as one of the main manifestations of NF1, often experience pain, dysfunction, skeletal deformities, changes in appearance and other symptoms. In severe cases, compression of the airways and vital organs occurs, and the PN is at risk of malignancy progression. At present, its treatment is still challenging. Surgery is the primary treatment for PN, but complete resection is often difficult. In recent years, chemotherapy for PN has become a hot topic. This article reviews the research progress in the pathogenesis, diagnosis and treatment of PN in recent years.

摘要：Ⅰ型神经纤维瘤病（NF1）是一种常染色体显性遗传病，是由位于染色体17q11.2的NF1基因突变导致神经纤维蛋白失活或表达下调，从而产生以神经纤维瘤为主要特征的一系列神经皮肤损害。丛状神经纤维瘤（PN）作为NF1的主要表现之一，常引发患者疼痛、功能障碍、骨骼畸形、外貌变化等多种症状，严重者可造成气道及重要器官受压，危及生命，且PN有向恶性转化的风险。目前，其治疗仍是一个棘手的问题，手术是治疗PN的主要方法，但常常难以完全切除。近些年，针对PN的化学药物治疗成为热点。本文对近年来PN的发病机制、诊断及治疗等方面的研究进展进行综述。.

Keywords: child; diagnosis; neurofibromatosis type 1; plexiform neurofibromas; therapy.

Publication types

  • Review

MeSH terms

  • Child
  • Genes, Neurofibromatosis 1
  • Humans
  • Mutation
  • Neurofibroma, Plexiform* / drug therapy
  • Neurofibroma, Plexiform* / genetics
  • Neurofibroma, Plexiform* / pathology
  • Neurofibromatosis 1* / diagnosis
  • Neurofibromatosis 1* / genetics
  • Neurofibromatosis 1* / therapy

Grants and funding

首都临床诊疗技术研究及转化应用(No：Z201100005520077)