Sial Moska, George K Joshi
Departmet of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.
Neurosurgery, Salford Royal Foundation Trust, Manchester, United Kingdom.
World Neurosurg. 2023 Jan;169:e157-e163. doi: 10.1016/j.wneu.2022.10.100. Epub 2022 Nov 2.
Spinal lesions are a known manifestation of neurofibromatosis type 1 (NF1). The aim of this retrospective review was to analyze and report the prevalence of spinal lesions on imaging in a large NF1 center.
The data were collected from a period of 62 months from a cohort of 514 patients. Data were collected from multidisciplinary team meeting reports that included radiologic reports of each patient investigating 20 distinct variables. The prevalence of each of these lesions was calculated, and any statistically significant associations were investigated using the χ test.
Four-hundred forty-seven patients had classic NF1, and 67 patients had spinal NF1. Many of the patients had spinal abnormalities; 25.7% of these patients were found to have dural ectasia, whereas 44.9% of patients had a spinal deformity. A statistically significant association between dural ectasia and spinal neurofibromatosis was established (P < 0.05). An additional statically significant association was established between dural ectasia and spinal deformity (P < 0.00001). The patients with spinal nerve root tumors were identified, and it was found that 49.8% of patients possessed these tumors, whereas 56.3% of these tumors were intraspinal tumors. The most common region affected was the cervical spine, and the most common spinal level was C2.
This high prevalence of spinal tumours in mobile areas of the spine is possibly the result of a combination of genetic predisposition and repeated microtraumas resulting in tumor formation. This is the largest reported study of spinal lesions in NF1 based on imaging and offers insights into the etiology and relationships between lesions.
脊柱病变是1型神经纤维瘤病（NF1）的一种已知表现。本回顾性研究的目的是分析并报告在一个大型NF1中心影像学检查中脊柱病变的患病率。
数据收集自514例患者，为期62个月。数据来自多学科团队会议报告，其中包括对每位患者进行20项不同变量调查的放射学报告。计算每种病变的患病率，并使用χ检验研究任何具有统计学意义的关联。
447例患者患有典型NF1，67例患者患有脊柱NF1。许多患者存在脊柱异常；其中25.7%的患者被发现有硬脊膜扩张，而44.9%的患者有脊柱畸形。硬脊膜扩张与脊柱神经纤维瘤病之间建立了统计学上的显著关联（P<0.05）。硬脊膜扩张与脊柱畸形之间还建立了另一个统计学上的显著关联（P<0.00001）。识别出患有脊神经根肿瘤的患者，发现49.8%的患者有这些肿瘤，而这些肿瘤中有56.3%是椎管内肿瘤。受影响最常见的区域是颈椎，最常见的脊柱节段是C2。
脊柱活动部位脊柱肿瘤的高患病率可能是遗传易感性和反复微创伤导致肿瘤形成共同作用的结果。这是基于影像学对NF1脊柱病变进行的最大规模报道研究，为病变的病因及相互关系提供了见解。
