Case Report: Surgical Decompression With Subsequent Selumetinib Treatment Leads to Drastic Clinical Improvement in a Patient With a Large Spinal Plexiform Neurofibroma.

Abstract

Background/aim: Plexiform neurofibromas are the hallmark of neurofibromatosis type 1, an autosomal dominantly inherited multisystem disorder. Spinal plexiform neurofibromas can particularly cause severe neurological symptoms. Treatment options are limited due to invasive growth, and targeted therapy with selumetinib is only approved for inoperable tumors in children. The aim of this report was to highlight that selumetinib therapy post-surgery provides an alternative strategy for spinal plexiform neurofibroma, providing both an immediate relief of the symptoms and long-term tumor management.

Case report: We describe a patient with neurofibromatosis type 1 and a large spinal plexiform neurofibroma causing severe neurological deficits. A drastic clinical improvement was achieved 6 months after neurosurgical spinal decompression and adjuvant selumetinib therapy.

Conclusion: A combination of decompression surgery and selumetinib therapy provides a promising option for the management of spinal plexiform neurofibromas causing severe neurological deficits.