Division of Oncology, Children's Hospital of Philadelphia, 3500 Civic Center Blvd, Philadelphia, PA, 19104, USA.
Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, 3500 Civic Center Blvd, Philadelphia, PA, 19104, USA.
Childs Nerv Syst. 2024 Oct;40(10):3241-3250. doi: 10.1007/s00381-024-06430-8. Epub 2024 May 5.
Neurofibromatosis type 1 (NF1) is an autosomal dominant cancer predisposition syndrome characterized by the development of both central and peripheral nervous system tumors. Low-grade glioma (LGG) is the most prevalent central nervous system tumor occurring in children with NF1, arising most frequently within the optic pathway, followed by the brainstem. Historically, treatment of NF1-LGG has been limited to conventional cytotoxic chemotherapy and surgery. Despite treatment with chemotherapy, a subset of children with NF1-LGG fail initial therapy, have a continued decline in function, or recur. The recent development of several preclinical models has allowed for the identification of novel, molecularly targeted therapies. At present, exploration of these novel precision-based therapies is ongoing in the preclinical setting and through larger, collaborative clinical trials. Herein, we review the approach to surveillance and management of NF1-LGG in children and discuss upcoming novel therapies and treatment protocols.
神经纤维瘤病 1 型(NF1)是一种常染色体显性遗传的癌症易感性综合征,其特征是中枢和周围神经系统肿瘤的发展。低级别胶质瘤(LGG)是 NF1 患儿最常见的中枢神经系统肿瘤,最常发生在视神经通路内,其次是脑干。历史上,NF1-LGG 的治疗仅限于传统细胞毒性化疗和手术。尽管进行了化疗,但一部分 NF1-LGG 患儿初始治疗失败、功能持续下降或复发。最近几种临床前模型的发展使得能够鉴定出新的、针对分子靶点的治疗方法。目前,正在临床前环境中和通过更大的合作临床试验中探索这些新的基于精准医学的治疗方法。在此,我们回顾了儿童 NF1-LGG 的监测和管理方法,并讨论了即将出现的新疗法和治疗方案。