Case Report: Selumetinib as a neoadjuvant treatment for the removal of a PN

Vollständiger Abstract

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Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder that presents with benign tumors of the peripheral nerve sheath, named plexiform neurofibromas. Progressive tumor growth may cause pain, physical disfigurement, and compression of adjacent structures, potentially impairing normal development during childhood. We report the case of a 13-year-old patient with a plexiform neurofibroma in the right foot, which had been growing since the first months of life and compromised the talocalcaneal joint, severely impairing the patient's quality of life. The tumor was initially deemed inoperable due to the high risk of bleeding and impairment of the functional structure. Therefore, treatment with selumetinib was started. After nearly a year, the tumor volume had decreased significantly, allowing its resection and orthopedic reconstruction surgery. Selumetinib was discontinued 3 years post-surgery to evaluate tumor stability; however, tumor regrowth occurred, and the treatment was resumed. This case highlights the neoadjuvant role of selumetinib in transforming a tumor from inoperable to operable, resulting in a substantial improvement in the patient's quality of life.