Targeted therapy for inoperable plexiform neurofibromas in children with neurofibromatosis type 1

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Abstract
Neurofibromatosis type 1 is a multisystem genetic disorder characterized by the development of benign and malignant tumors, among which plexiform neurofibromas occupy a special place. These tumors, which occur in 10–30% of patients, significantly impair the quality of life, causing pain, disfigurement and functional impairment. Traditional treatment of plexiform neurofibromas was limited to surgical intervention, but the possibility of radical resection of tumors exists only in a small number of patients. The use of the selective MEK inhibitor selumetinib has opened a new stage of therapy for inoperable plexiform neurofibromas. Clinical studies demonstrate a significant reduction in tumor volume (68% of patients showed a partial response with long-term improvement) and improvement in clinical symptoms, such as pain and motor impairment. Despite predominantly mild or moderate toxicity, the most common adverse events included skin reactions, gastrointestinal disorders, and increased creatine phosphokinase levels, requiring careful monitoring and timely correction. The introduction of selumetinib into clinical practice has significantly changed the approach to managing patients with neurofibromatosis type 1, allowing for effective control of plexiform neurofibromas growth, improving the quality of life of patients, and minimizing the need for repeated traumatic surgical interventions. However, further study of optimal doses, duration of treatment, and monitoring of adverse events during targeted therapy of inoperable plexiform neurofibromas in children with neurofibromatosis type 1 is required.

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