Neurofibromatosis type 1-plexiform neurofibromas: Integrating treatment across pediatric and adult populations

1型神经纤维瘤病——丛状神经纤维瘤:整合儿童和成人人群的治疗

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Abstract

Plexiform neurofibromas (PNs) are a hallmark of neurofibromatosis type 1 (NF1), affecting ∼50% of individuals with the condition. Originating from Schwann cells and other peripheral nerve sheath components, these tumors can cause significant morbidity, including functional impairment, diminished health-related quality of life, chronic pain, and malignant transformation. Managing NF1-PNs is challenging because of disease variability, differing growth rates, and age-related differences in clinical presentation and treatment tolerability. This review examines current therapeutic strategies, including surgery, medical therapies, and emerging treatments, emphasizing individualized care. Highlighted here is the need for age-specific treatment planning, particularly as disease progression, comorbidities, and side-effect profiles differ between pediatric and adult patients. Optimizing outcomes requires personalized surveillance and coordinated multidisciplinary management across all age groups. While MEK inhibitors (MEKi) provide therapeutic benefit, their long-term efficacy and safety, particularly in pediatric patients who may receive these agents for extended periods, warrant further investigation. Additionally, adult patients face unique comorbidities that may complicate therapy. Superficial PNs and potential MEK inhibitor resistance remain underexplored. Growing interest in combination therapies and adjuvant strategies may improve outcomes. Ongoing research is crucial to personalize treatment regimens, to identify effective combinations, and to refine surveillance protocols, ultimately enhancing long-term quality of life for individuals living with NF1-PN.

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