2025 年第 5 期 第 20 卷

丛状神经纤维瘤药物及基因治疗进展

Advances in drug and gene therapy for plexiform neurofibroma

作者：赵真毕云彦张雅慧张文

英文作者：Zhao Zhen Bi Yunyan Zhang Yahui Zhang Wen

单位：山东第一医科大学附属省立医院药学部，济南250000 赵真为山东第一医科大学2023级药学专业硕士研究生

英文单位：Department of Pharmacy Shandong Provincial Hospital Affiliated to Shandong First Medical University Jinan 250000 China Zhao Zhen is a Grade 2023 Master of Pharmacy in Shandong First Medical University

关键词：丛状神经纤维瘤；药物治疗；基因治疗；作用机制

英文关键词：Plexiformneurofibroma;Drugtreatment;Genetherapy;Actionmechanism

• 摘要：

• 丛状神经纤维瘤（pNF）是一种罕见的良性神经鞘瘤，见于30%~50%的1型神经纤维瘤病患者。pNF可累及头颈部、眶内、四肢、胸腹盆腔、脊椎椎管内及神经根、周围神经等部位，可能会导致严重的疼痛和毁容，甚至危及器官功能。手术是pNF的主要治疗手段，近年来，随着肿瘤学、神经科学、遗传学及药理学等多学科的共同发展，内科治疗也显示出了巨大的应用前景。本文就pNF内科治疗中的药物及基因治疗进展进行综述。

• Plexiform neurofibroma (pNF) is a rare benign schwannoma, which occurs in 30%-50% of patients with neurofibromatosis type 1. pNF can involve the head and neck, orbit, limbs, chest, abdomen, pelvic cavity, spinal canal, nerve roots, peripheral nerves and other parts, which may lead to severe pain and disfigupation, and even endanger organ function. Surgery is the main treatment for pNF. In recent years, with the joint development of oncology, neuroscience, genetics and pharmacology, medical treatment has also shown great application prospects. This article reviews the progress of drug and gene therapy in the medical treatment of pNF.