口腔疾病防治2026，Vol.34Issue(1)：1-14,14.DOI:10.12016/j.issn.2096-1456.202550280
头颈部1型神经纤维瘤病相关丛状神经纤维瘤的治疗进展与挑战
Advances and challenges in the treatment of neurofibromatosis type 1 related plexiform neurofibromatosis in the head and neck
摘要
Abstract
Neurofibromatosis type 1(NF1)is an autosomal dominant genetic disorder caused by mutations in the NF1 gene located at 17q11.2.Plexiform neurofibromas(PN)are one of the common clinical manifestations of NF1,known as NF1-related plexiform neurofibromas(NF1-PN).Head and neck NF1-PN account for 42.9%of all cases.Tu-mors grow rapidly during childhood and adolescence,and they can exhibit widespread growth,causing severe head,face,and neck deformities,organ dysfunction,and even loss of function.NF1-PN have the potential to transform into malignant peripheral nerve sheath tumors(MPNSTs),known as NF1-associated MPNST(NF1-MPNST).Histopathology is the gold standard for diagnosing NF1-PN,magnetic resonance imaging(MRI)is the preferred imaging examination for NF1-PN,and PET/CT examination is a reliable method for early detection and diagnosis of NF1-MPNST.Genetic test-ing plays an important role in early diagnosis of tumors,monitoring tumor progression,genetic counseling,and molecu-lar level treatment and management of the disease.This article proposes the goals and principles for treating NF1-PN in the head and neck region.The main treatment methods currently used are surgery and medication.Surgical treatment includes surgical resection,and tissue flap repair or allogeneic transplantation of composite tissue after surgical resec-tion.The mitogen-activated protein kinase inhibitors(MEK)inhibitor Selumetinib is an effective medication used to treat NF1-PN patients aged 3 years and older with symptoms and who are unable to undergo surgery.A Phase Ⅱb trial of mirdametinib,a small-molecule inhibitor,has been completed in adults and children,and it is considered well toler-ated in both groups.CRISPR/Cas9 technology is expected to become an effective means of NF1-PN gene therapy.The treatment method of NF1-MPNST is similar to that of soft tissue sarcoma.However,the safety of complete resection of extra-large tumors,protection of important tissues and organs during surgery,effective control of intraoperative bleed-ing,reconstruction of soft and hard tissue defects in the head and neck;prospective,multicenter,randomized,double-blind,controlled clinical trials of MEK inhibitors,as well as the use of CRISPR/Cas9 technique for gene therapy NF1-PN,are all current challenges.This article summarizes recent advances and ongoing challenges in the treatment of head and neck NF1-PN,aiming to provide a reference for clinicians and researchers.关键词
1型神经纤维瘤病/1型神经纤维瘤病相关丛状神经纤维瘤/恶性周围神经鞘膜瘤/头颈部/外科治疗/组织瓣修复/复合组织同种异体移植/MEK抑制剂/司美替尼/NF1基因Key words
neurofibromatosis type 1/neurofibromatosis type 1-related plexiform neurofibromas/malignant pe-ripheral nerve sheath tumor/head and neck/surgical treatment/flap reconstruction/composite tissue allotrans-plantation/MEK inhibitor/selumetinib/NF1 gene分类
医药卫生引用本文复制引用
陈伟良..头颈部1型神经纤维瘤病相关丛状神经纤维瘤的治疗进展与挑战[J].口腔疾病防治,2026,34(1):1-14,14.基金项目
国家自然科学基金项目(81772888) This study was supported by the grants from National Natural Science Foundation of China(No.81772888). （81772888）
