Blakeley Jaishri O, Bakker Annette, Barker Anne, Clapp Wade, Ferner Rosalie, Fisher Michael J, Giovannini Marco, Gutmann David H, Karajannis Matthias A, Kissil Joseph L, Legius Eric, Lloyd Alison C, Packer Roger J, Ramesh Vijaya, Riccardi Vincent M, Stevenson David A, Ullrich Nicole J, Upadhyaya Meena, Stemmer-Rachamimov Anat
Johns Hopkins University School of Medicine, Baltimore, Maryland.
Children's Tumor Foundation, New York, New York.
Am J Med Genet A. 2017 Jun;173(6):1714-1721. doi: 10.1002/ajmg.a.38239. Epub 2017 Apr 24.
The Annual Children's Tumor Foundation International Neurofibromatosis Meeting is the premier venue for connecting discovery, translational and clinical scientists who are focused on neurofibromatosis types 1 and 2 (NF1 and NF2) and schwannomatosis (SWN). The meeting also features rare tumors such as glioma, meningioma, sarcoma, and neuroblastoma that occur both within these syndromes and spontaneously; associated with somatic mutations in NF1, NF2, and SWN. The meeting addresses both state of the field for current clinical care as well as emerging preclinical models fueling discovery of new therapeutic targets and discovery science initiatives investigating mechanisms of tumorigenesis. Importantly, this conference is a forum for presenting work in progress and bringing together all stakeholders in the scientific community. A highlight of the conference was the involvement of scientists from the pharmaceutical industry who presented growing efforts for rare disease therapeutic development in general and specifically, in pediatric patients with rare tumor syndromes. Another highlight was the focus on new investigators who presented new data about biomarker discovery, tumor pathogenesis, and diagnostic tools for NF1, NF2, and SWN. This report summarizes the themes of the meeting and a synthesis of the scientific discoveries presented at the conference in order to make the larger research community aware of progress in the neurofibromatoses.
儿童肿瘤基金会国际神经纤维瘤病年会是一个重要的平台,汇聚了专注于1型和2型神经纤维瘤病(NF1和NF2)以及神经鞘瘤病(SWN)的探索、转化和临床科学家。会议还涉及胶质细胞瘤、脑膜瘤、肉瘤和神经母细胞瘤等罕见肿瘤,这些肿瘤既出现在这些综合征中,也有自发发生的情况;它们与NF1、NF2和SWN中的体细胞突变有关。会议既讨论了当前临床护理领域的现状,也探讨了推动新治疗靶点发现的新兴临床前模型以及研究肿瘤发生机制的探索性科学倡议。重要的是,本次会议是一个展示正在进行的工作并汇聚科学界所有利益相关者的论坛。会议的一大亮点是制药行业科学家的参与,他们展示了在罕见病治疗开发方面日益增多的努力,特别是针对患有罕见肿瘤综合征的儿科患者。另一个亮点是关注新的研究人员,他们展示了关于NF1、NF2和SWN的生物标志物发现、肿瘤发病机制和诊断工具的新数据。本报告总结了会议主题以及会议上展示的科学发现,以便让更广泛的研究界了解神经纤维瘤病领域的进展。