Yuen Carlen A, Chu Eleanor, O'Connell Ryan, Sun Bryan K, Vyas Raj, Zheng Michelle, Elliott Emma, Xiao Changrui
Department of Neurology, Division of Neuro-oncology, University of California Irvine, Irvine, CA 92697, USA.
Chao Family Comprehensive Cancer Center, University of California Irvine, Irvine, CA 92697, USA.
Pharmaceuticals (Basel). 2025 Jul 13;18(7):1039. doi: 10.3390/ph18071039.
Neurofibromatosis Type 1 (NF1) plexiform neurofibroma (PN) can cause morbidity, including disfigurement that can negatively impact social functioning. Historically, the mainstay treatment is surgical resection. However, complete resection is often prohibitive due to multiple nerve involvement. Moreover, post-operative recurrence is common. MEK inhibitors, including selumetinib and mirdametinib, have recently changed the treatment paradigm for these tumors. In 2020, selumetinib was FDA-approved for pediatric NF1 patients with inoperable symptomatic PNs, but selumetinib remains under investigation for their adult counterparts. In 2025, mirdametinib was FDA-approved for use in adults with symptomatic incompletely resectable NF1 PNs. Lower partial response rates have been reported with mirdametinib compared to selumetinib, but direct comparative analyses have not been conducted to establish the superiority of one agent over the other. We present a case of a 38-year-old male with a right facial PN successfully treated with selumetinib, resulting in a 16.77% tumor volumetric reduction over 7 months. Selumetinib was well tolerated in our patient, with an asymptomatic Grade 3 CPK elevation that subsequently improved with a dose reduction. Our case adds to the growing body of evidence suggesting that selumetinib is effective and well tolerated in adult patients with NF1-associated PNs.
1型神经纤维瘤病（NF1）丛状神经纤维瘤（PN）可导致发病，包括毁容，这会对社会功能产生负面影响。从历史上看，主要治疗方法是手术切除。然而，由于多根神经受累，往往无法进行完全切除。此外，术后复发很常见。包括司美替尼和米哚妥林在内的MEK抑制剂最近改变了这些肿瘤的治疗模式。2020年，司美替尼被美国食品药品监督管理局（FDA）批准用于患有无法手术的有症状PN的儿科NF1患者，但司美替尼在成人患者中的应用仍在研究中。2025年，米哚妥林被FDA批准用于患有有症状的不完全可切除NF1 PN的成人患者。与司美替尼相比，米哚妥林的部分缓解率较低，但尚未进行直接对比分析以确定一种药物优于另一种药物。我们报告一例38岁男性右侧面部PN患者，用司美替尼成功治疗，7个月内肿瘤体积缩小16.77%。司美替尼在我们的患者中耐受性良好，出现无症状的3级肌酸磷酸激酶（CPK）升高，随后通过降低剂量得到改善。我们的病例增加了越来越多的证据，表明司美替尼对患有NF1相关PN的成人患者有效且耐受性良好。
