Spinal manifestations of Neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) patients may present a wide spectrum of spinal pathologies. Osseous changes may lead to severe deformities with significant implications on growth and quality of life. Neurogenic tumors and soft tissue abnormalities may cause neuropathic pain and dysfunction ranging from minor paresthesias to profound motor and sensory deficits. Advanced imaging such as whole-body MRI, and volumetric tumor burden assessment have an evolving role in the evaluation and follow-up of patients with high spinal tumor load. Novel biological agents that target the hyperactivated ras pathway are currently under investigation and are reshaping current and future treatment paradigms. Surgical interventions for benign and malignant tumors, as well as deformity correction remain pivotal in treatment frameworks and require careful assessment by a dedicated multidisciplinary team.

In this manuscript we review the various spinal manifestations of NF1 patients, indication for surgical intervention and oncological treatments.