Purpose or Case Report: Selumetinib Therapy for Plexiform Neurofibroma in Neurofibromatosis Type 1: A Case Report
Methods & Materials: Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by mutations in the NF1 gene, which encodes neurofibromin—a tumor suppressor that regulates the RAS/MAPK pathway. One of its hallmark manifestations is the development of plexiform neurofibromas (PNs), benign but often infiltrative nerve sheath tumors that can cause pain, disfigurement, and functional impairment. Surgical management is frequently limited due to the diffuse and inoperable nature of these lesions. Selumetinib, a selective MEK1/2 inhibitor, has recently emerged as an effective targeted therapy for symptomatic, inoperable PNs in pediatric NF1 patients.


We report the case of a 15-year-old male with a confirmed diagnosis of NF1, presenting with multiple café-au-lait macules and cutaneous neurofibromas. MRI of the central nervous system revealed bilateral optic nerve enlargement consistent with optic pathway glioma, without visual deficits. During hospitalization, an intra-abdominal mass was detected and biopsy confirmed the diagnosis of plexiform neurofibroma. Given the inoperable nature of the tumor, the patient was enrolled in a national targeted therapy program and initiated on selumetinib. Treatment has been well tolerated with no major adverse effects. Laboratory monitoring showed mildly elevated inflammatory markers (CRP, fibrinogen, APTT) without clinical symptoms. The patient also presented with ADHD-related behavioral disturbances, requiring psychiatric and neuropsychological support.


This case highlights the clinical complexity of NF1 with multi-system involvement and coexisting neuropsychiatric comorbidities. Plexiform neurofibromas, though histologically benign, can behave aggressively and carry a risk of malignant transformation. Selumetinib targets the dysregulated RAS/MAPK pathway in NF1 and has shown promising results in reducing PN volume and improving quality of life. Ongoing monitoring of therapeutic response and potential toxicities is essential.


Selumetinib represents a major advance in the management of inoperable plexiform neurofibromas in NF1. This case emphasizes the importance of a multidisciplinary approach that addresses both oncologic and neuropsychiatric aspects of care to optimize long-term outcomes.
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