Spinal manifestations of Neurofibromatosis type 1
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ANNUAL ISSUE PAPER
Spinal manifestations of Neurofibromatosis type 1 Ben Shofty 1,2
&
Ori Barzilai 3 & Morsi Khashan 1 & Zvi Lidar 1 & Shlomi Constantini 2,4
Received: 16 May 2020 / Accepted: 16 June 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Background 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. Purpose In this manuscript we review the various spinal manifestations of NF1 patients, indication for surgical intervention and oncological treatments. Keywords NF1 . Spine . Neurofibroma . Plexiform . MEK
Introduction Neurofibromatosis type 1(NF1), a systemic syndrome that results from germline mutation in the nf1 gene, may manifest in a variety of structural and neoplastic spinal changes. NF1associated osseous changes include kyphoscoliosis and vertebral body anomalies. Soft tissue abnormalities include dural ectasia, lateral meningocele, and various spinal tumors [1–4]. Neoplastic spinal involvement in NF1 varies widely; patients may be affected by nerve sheath tumors (NST) such as neurofibromas, plexiform neurofibromas (PN), and intramedullary glial tumors. Interestingly, pure intra-dural tumors are relatively rare in NF1, known to occur in only ~ 2–6% of patients, as most neoplastic involvements are para-spinal [5], extending from the * Shlomi Constantini [email protected] 1
Department of Neurosurgery, Tel-Aviv Medical Center and Tel Aviv University, Tel Aviv, Israel
2
The Gilbert Israeli International Neurofibromatosis Center (GIINFC), Tel Aviv, Israel
3
Department of Neurological Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA
4
Department of Pediatric Neurosurgery, Dana Children’s Hospital, Tel-Aviv Medical Center and Tel Aviv University, Tel-Aviv, Israel
neuroforamina laterally. Anatomically, most spinal tumors in NF1 are foraminal (~ 57% of patients with spinal involvement), followed by intradural-extramedullary (33%) [5]. Intramedullary tumors occur rarely and are usually of glial origin. In our center, which is a tertiary, regional NF1 referral center (the Gilbert Israeli International NF Center—GIINFC) out of ~ 300 adult NF1 patients, only 34 required dedicated imaging for work-up of their spinal disease.
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