Os efeitos do Selumetinibe para tratamento de Neurofibromatose tipo I em pacientes pediátrico: um relato de caso e revisão de literatura

Abstract

Introduction: Neurofibromatosis type 1 (NF1) is a genetic disease that can manifest clinically in childhood with hyperchromic macules (café-au-lait spots), cutaneous neurofibromas, Lisch nodules, and plexiform neurofibromas. Plexiform neurofibromas (NP) are common in NF1 (30-50%) and cause significant morbidity and impact on the quality of life of children and adolescents with this pathology. Until recently, surgery, when indicated, was the only treatment for NP and was often limited due to tumor location, morbidity, and recurrences. Therefore, new therapies for this disease have become essential. A drug called selumetinib, a MEK inhibitor, was then approved in 2021. Case report: This paper presents the case of a 7-year-old patient diagnosed with NF1 and the presence of symptomatic and unresectable plexiform neurofibromas in the cervical and sacral plexus, involving the sciatic nerve. This is the first patient at a University Hospital in Bahia to use this drug for PN, and she is among the first patients in the state to start using selumetinib. She has been using this drug for 11 months, with improvements in her quality of life, especially due to the significant reduction in pain in the first 2 months of therapy. A reduction in the size of the neurofibroma in the lower limb was also observed by physical examination and magnetic resonance imaging. Discussion: Plexiform neurofibromas can grow diffusely along peripheral nerves and are responsible for deformities, pain, and neurological dysfunction. Selumetinib represents a promising therapeutic approach for these tumors, offering a non-surgical option for management in pediatric patients, improving quality of life and controlling tumor growth. Regarding adverse effects, it is recommended to monitor cardiac and liver function and perform regular ophthalmological evaluations. Overall, it has been a well-tolerated drug. Conclusion: Cross-sectional studies for a longer period and a larger population sample are needed to elucidate the ideal duration of treatment and the possibility of including patients with asymptomatic neurofibromas, but with potential for severity due to their location.