Abstract：
BACKGROUND: Neurofibromatosis type 1 (NF 1) is an autosomal-dominant tumor predisposition genetic disease affecting approximately 1 in 3000 live births. The condition could present various manifestations ranging from skin abnormalities to neurological tumors. The musculoskeletal system could also be frequently affected, and scoliosis is the most common orthopedic manifestation. Characterized by the early-onset and rapid progression tendency, NF 1-related dystrophic scoliosis presented discrepancies from idiopathic scoliosis in terms of natural history, clinical features, and management outcomes and thus required special attention. In the current study, the authors conducted a systemic review to outline the body of evidence of the natural history, clinical characteristics, surgical outcomes, and surgical complications of NF 1-induced scoliosis, aiming to provide an elucidative insight into this condition.
METHODS: Systemic review and meta-analysis were conducted according to the latest Preferred Reporting Items for Systematic Reviews Meta-Analyses (PRISMA) guidelines. The search was performed in Medline, Embase, and Web of Science Core Collection up to December 27, 2022, using related keywords. Clinical features such as frequencies, segmental involvement, and hereditary information were summarized and described qualitatively. Meta-analysis was conducted using R software and the \'meta\' package to yield an overall outcome of efficacy and safety of surgical management, precisely, spinal fusion procedure and growing rods procedure. Corrective rate of Cobb angle, sagittal kyphosis angle, and T1-S1 length post-operative and at the last follow-up was used to evaluate the efficacy, and the occurrence of surgery-related complications was used to evaluate the safety.
RESULTS: A total of 37 articles involving 1023 patients were included. Approximately 26.6% of the NF 1 patients would present with scoliosis. Patients tend to develop scoliosis at an earlier age. The thoracic part turned out to be the most affected segment. No obvious correlation between scoliosis and genotype or hereditary type was observed. Both spinal fusion and growing rod surgery have shown acceptable treatment outcomes, with spinal fusion demonstrating better performance in terms of effectiveness and safety. The growing rods technique seemed to allow a better lengthening of the spine. The mainstay post-operative complications were implant-related complications but could be managed with limited revision surgery. Severe neurological deficits were rarely reported.
CONCLUSIONS: Scoliosis, especially the subtype characterized by dystrophic bony changes, is a significant orthopedic manifestation of NF1. It has an early onset, a tendency to persistently and rapidly progress, and is challenging to deal with. The current review outlines the available evidence from the perspective of natural history, clinical features, and the treatment efficacy and safety of the mainstay surgical options. Patients with NF1 scoliosis will benefit from a better understanding of the disease and evidence based treatment strategies.
METHODS: Systemic review and meta-analysis were conducted according to the latest Preferred Reporting Items for Systematic Reviews Meta-Analyses (PRISMA) guidelines. The search was performed in Medline, Embase, and Web of Science Core Collection up to December 27, 2022, using related keywords. Clinical features such as frequencies, segmental involvement, and hereditary information were summarized and described qualitatively. Meta-analysis was conducted using R software and the \'meta\' package to yield an overall outcome of efficacy and safety of surgical management, precisely, spinal fusion procedure and growing rods procedure. Corrective rate of Cobb angle, sagittal kyphosis angle, and T1-S1 length post-operative and at the last follow-up was used to evaluate the efficacy, and the occurrence of surgery-related complications was used to evaluate the safety.
RESULTS: A total of 37 articles involving 1023 patients were included. Approximately 26.6% of the NF 1 patients would present with scoliosis. Patients tend to develop scoliosis at an earlier age. The thoracic part turned out to be the most affected segment. No obvious correlation between scoliosis and genotype or hereditary type was observed. Both spinal fusion and growing rod surgery have shown acceptable treatment outcomes, with spinal fusion demonstrating better performance in terms of effectiveness and safety. The growing rods technique seemed to allow a better lengthening of the spine. The mainstay post-operative complications were implant-related complications but could be managed with limited revision surgery. Severe neurological deficits were rarely reported.
CONCLUSIONS: Scoliosis, especially the subtype characterized by dystrophic bony changes, is a significant orthopedic manifestation of NF1. It has an early onset, a tendency to persistently and rapidly progress, and is challenging to deal with. The current review outlines the available evidence from the perspective of natural history, clinical features, and the treatment efficacy and safety of the mainstay surgical options. Patients with NF1 scoliosis will benefit from a better understanding of the disease and evidence based treatment strategies.
摘要：
背景：1型神经纤维瘤病（NF1）是一种常染色体显性遗传的肿瘤易感性遗传疾病，影响约3000例活产。这种情况可能会出现各种表现，从皮肤异常到神经肿瘤。肌肉骨骼系统也可能经常受到影响，脊柱侧弯是最常见的骨科表现。以早发和快速进展趋势为特征，NF1相关的营养不良性脊柱侧凸与特发性脊柱侧凸在自然史方面存在差异。临床特征,和管理成果，因此需要特别关注。在目前的研究中,作者进行了系统的审查，概述了自然史的证据，临床特征,手术结果,和NF1诱导的脊柱侧凸的手术并发症，旨在提供对这种情况的阐明性见解。
方法：根据最新的系统评价Meta分析首选报告项目（PRISMA）指南进行系统评价和meta分析。搜索是在Medline进行的,Embase,和WebofScience核心合集，截至2022年12月27日，使用相关关键字。临床特征，如频率，分段参与，和遗传信息进行了总结和定性描述。使用R软件和“meta”软件包进行荟萃分析，以得出手术治疗的有效性和安全性的总体结果。准确地说,脊柱融合手术和生长棒手术。Cobb角修正率,矢状后凸角度,术后和末次随访时使用T1-S1长度评估疗效，并对手术相关并发症的发生情况进行安全性评价。
结果：共纳入37篇文献，涉及1023例患者。大约26.6%的NF-1患者会出现脊柱侧凸。患者倾向于在较早的年龄发展脊柱侧弯。胸部是受影响最大的部分。未观察到脊柱侧凸与基因型或遗传型之间的明显相关性。脊柱融合术和生长棒手术均显示出可接受的治疗结果，脊柱融合术在有效性和安全性方面表现更好。生长杆技术似乎可以更好地延长脊柱。术后主要并发症是与植入物相关的并发症，但可以通过有限的翻修手术来管理。很少报道严重的神经功能缺损。
结论：脊柱侧凸，尤其是以营养不良性骨变化为特征的亚型，是NF1的重要骨科表现。它有一个早期发作，持续快速进步的趋势，处理起来很有挑战性。当前的评论从自然历史的角度概述了现有的证据，临床特征,以及主要手术选择的治疗效果和安全性。NF1脊柱侧凸患者将受益于对疾病的更好理解和基于证据的治疗策略。
方法：根据最新的系统评价Meta分析首选报告项目（PRISMA）指南进行系统评价和meta分析。搜索是在Medline进行的,Embase,和WebofScience核心合集，截至2022年12月27日，使用相关关键字。临床特征，如频率，分段参与，和遗传信息进行了总结和定性描述。使用R软件和“meta”软件包进行荟萃分析，以得出手术治疗的有效性和安全性的总体结果。准确地说,脊柱融合手术和生长棒手术。Cobb角修正率,矢状后凸角度,术后和末次随访时使用T1-S1长度评估疗效，并对手术相关并发症的发生情况进行安全性评价。
结果：共纳入37篇文献，涉及1023例患者。大约26.6%的NF-1患者会出现脊柱侧凸。患者倾向于在较早的年龄发展脊柱侧弯。胸部是受影响最大的部分。未观察到脊柱侧凸与基因型或遗传型之间的明显相关性。脊柱融合术和生长棒手术均显示出可接受的治疗结果，脊柱融合术在有效性和安全性方面表现更好。生长杆技术似乎可以更好地延长脊柱。术后主要并发症是与植入物相关的并发症，但可以通过有限的翻修手术来管理。很少报道严重的神经功能缺损。
结论：脊柱侧凸，尤其是以营养不良性骨变化为特征的亚型，是NF1的重要骨科表现。它有一个早期发作，持续快速进步的趋势，处理起来很有挑战性。当前的评论从自然历史的角度概述了现有的证据，临床特征,以及主要手术选择的治疗效果和安全性。NF1脊柱侧凸患者将受益于对疾病的更好理解和基于证据的治疗策略。
