Stephen E. and Catherine Pappas Center for Neuro-Oncology, Massachusetts General Hospital, Boston, Massachusetts, USA.
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
J Invest Dermatol. 2023 Aug;143(8):1388-1396. doi: 10.1016/j.jid.2023.01.041. Epub 2023 Jun 8.
Cutaneous neurofibromas (cNFs) are benign tumors of the skin that affect >95% of adults with neurofibromatosis type 1. Despite their benign histology, cNFs can significantly impact QOL due to disfigurement, pain, and pruritus. There are no approved therapies for cNFs. Existing treatments are limited to surgery or laser-based treatments that have had mixed success and cannot be readily applied to a large number of tumors. We review cNF treatment options that are currently available and under investigation, discuss the regulatory considerations specific to cNFs, and propose strategies to improve cNF clinical trial design and standardize clinical trial endpoints.
皮肤神经纤维瘤(cNFs)是一种良性皮肤肿瘤,影响超过 95%的 1 型神经纤维瘤病患者。尽管它们的组织学表现为良性,但由于外观受损、疼痛和瘙痒,cNFs 会严重影响生活质量。目前尚无针对 cNFs 的获批疗法。现有的治疗方法仅限于手术或基于激光的治疗,这些治疗方法的效果不一,并且不能轻易应用于大量肿瘤。我们综述了目前可用和正在研究的 cNF 治疗选择,讨论了 cNF 特有的监管考虑因素,并提出了改善 cNF 临床试验设计和标准化临床试验终点的策略。