Elefteriou Florent, Kolanczyk Mateusz, Schindeler Aaron, Viskochil David H, Hock Janet M, Schorry Elizabeth K, Crawford Alvin H, Friedman Jan M, Little David, Peltonen Juha, Carey John C, Feldman David, Yu Xijie, Armstrong Linlea, Birch Patricia, Kendler David L, Mundlos Stefan, Yang Feng-Chun, Agiostratidou Gina, Hunter-Schaedle Kim, Stevenson David A
Department of Medicine, Vanderbilt Center for Bone Biology, Vanderbilt University Medical Center, Nashville, Tennessee 37232-0575, USA.
Am J Med Genet A. 2009 Oct;149A(10):2327-38. doi: 10.1002/ajmg.a.33045.
The skeleton is frequently affected in individuals with neurofibromatosis type 1, and some of these bone manifestations can result in significant morbidity. The natural history and pathogenesis of the skeletal abnormalities of this disorder are poorly understood and consequently therapeutic options for these manifestations are currently limited. The Children's Tumor Foundation convened an International Neurofibromatosis Type 1 Bone Abnormalities Consortium to address future directions for clinical trials in skeletal abnormalities associated with this disorder. This report reviews the clinical skeletal manifestations and available preclinical mouse models and summarizes key issues that present barriers to optimal clinical management of skeletal abnormalities in neurofibromatosis type 1. These concepts should help advance optimal clinical management of the skeletal abnormalities in this disease and address major difficulties encountered for the design of clinical trials.
1型神经纤维瘤病患者的骨骼常受影响，其中一些骨骼表现可导致严重的发病情况。这种疾病骨骼异常的自然史和发病机制尚不清楚，因此目前针对这些表现的治疗选择有限。儿童肿瘤基金会召集了一个1型神经纤维瘤病骨异常国际联盟，以探讨与该疾病相关的骨骼异常的未来临床试验方向。本报告回顾了临床骨骼表现和现有的临床前小鼠模型，并总结了在1型神经纤维瘤病骨骼异常的最佳临床管理中存在障碍的关键问题。这些概念应有助于推进该疾病骨骼异常的最佳临床管理，并解决临床试验设计中遇到的主要困难。
