Spinal screening, malignancy, medical therapy, and surgical correction of deformity in pediatric patients with neurofibromatosis type 1: a systematic review

The objective of this systematic review was to synthesize evidence regarding spinal screening recommendations, types of spinal and thoracic neurofibromatosis type 1 (NF1) tumors, medical therapy for NF1-associated neoplasms, and treatment with magnetically controlled growing rods (MCGRs) or cervical kyphosis correction in pediatric patients with NF1. We queried PubMed, Embase, Cochrane Library, Web of Science, Scopus, Clinicaltrials.gov, and medRxiv for studies reporting spinal screening recommendations, prognosis, and medical therapy for NF1-associated spinal tumors and MCGR use or cervical kyphosis correction in pediatric NF1 patients, yielding 758 publications, 33 of which were included. There is no consensus on spinal screening interval. Computed tomography is recommended for postoperative monitoring. Patients with gangliomas and spinal neurofibromas had nearly complete symptom resolution after resection. Plexiform neurofibromas were most commonly treated with resection and laminectomy; some patients reported tumor enlargement after intervention. Malignant nerve sheath tumors have high rates of metastasis even after chemoradiation and resection. MEK-inhibitors produced limited regression in tumor size. Sirolimus and thalidomide reduced tumor size but caused more severe adverse effects than MEK-inhibitors. Improvements in major curves and T1–T12 height gain were reported after MCGR intervention. Anteroposterior arthrodesis produced the greatest correction of dystrophic cervical kyphosis. There may be value in establishing standardized spinal screening protocols for pediatric NF1 patients. Surgical correction of NF1-associated spinal deformity is effective, though current medical therapies for spinal tumors have limited success. Areas for further investigation include determining appropriate screening intervals, choice of medical therapy for spinal tumors, and long-term outcomes of MCGRs. Level of Evidence: IV.