组织工程与重建外科杂志

组织工程与重建外科杂志 ›› 2022, Vol. 18 ›› Issue (2): 179-.

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Ⅰ型神经纤维瘤病相关眼眶-眶周型丛状神经纤维瘤的临床治疗进展

  

  • 出版日期:2022-04-01 发布日期:2022-06-22

Advances in the clinical management of neurofibromatosis type I-associated orbital-periorbital

plexiform neurofibroma　

  • Online:2022-04-01 Published:2022-06-22

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摘要： Ⅰ型神经纤维瘤病是一种由nf1基因突变导致RAS通路调控异常的常染色体显性遗传病，其代表性特征神经纤维瘤可表现为浸润性生长的丛状神经纤维瘤。当瘤体累及眼眶及眶周组织时，可统一称为眼眶－眶周型丛状神经纤维瘤（OPPN）。OPPN的病情复杂性为临床治疗带来了巨大挑战，现有治疗方案包括外科治疗和靶向药物治疗。外科干预手术可一定程度缓解患者情况，但整体根治效果欠佳；靶向药物治疗近年来发展迅速，部分药物临床试验也显示出不俗的研究成果。本文主要对OPPN的机制、临床特征诊断及治疗方案进展进行综述。

关键词: Ⅰ型神经纤维瘤病, 　丛状神经纤维瘤, 　眶周肿瘤, 　MEK1/2抑制剂

Abstract: Neurofibromatosis type I (NF1) is an autosomal dominant inherited disorder caused by the NF1 gene mutation leading to abnormal regulation of the RAS pathway. Its most representative feature, neurofibroma, may present as an infiltrating plexiform neurofibroma (pNF) that invades the orbital and periorbital tissues. Scientists have therefore proposed a new term called orbital-periorbital plexiform neurofibromas (OPPN) for this type of pNF. The complexity of OPPN poses significant challenges to medical professionals. Existing treatment options include surgical treatment and targeted drug therapy. Surgical intervention can alleviate the patient's condition to a certain extent, but the overall effect remains unsatisfactory. Targeted drug therapy has developed rapidly in recent years, and some drug clinical trials have also shown promising results. In this paper, the mechanism, clinical features and treatment progress of OPPN were reviewed.

Key words: Neurofibromatosis type 1, 　Plexiform neurofibroma, 　Orbital tumor, 　MEK1/2 inhibitor