sheds 新的光芒：神经纤维瘤病 I 型儿童常见疾病的新型治疗方法。

Shedding New Light: Novel Therapies for Common Disorders in Children with Neurofibromatosis Type I.

机构信息

University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA; Division of Experimental Hematology and Cancer Biology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229-0731, USA; Cancer and Blood Diseases Institute, The Cure Starts Now Foundation Brain Tumor Center, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

Division of Experimental Hematology and Cancer Biology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229-0731, USA; Cancer and Blood Diseases Institute, The Cure Starts Now Foundation Brain Tumor Center, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Current Address: Division of Hematology-Oncology, University of Texas Southwestern, Dallas, TX, USA.

出版信息

Pediatr Clin North Am. 2023 Oct;70(5):937-950. doi: 10.1016/j.pcl.2023.05.007.

DOI:10.1016/j.pcl.2023.05.007

PMID:37704352

Abstract

Neurofibromatosis type I (NF1) is a common dominantly inherited disorder, and one of the most common of the RASopathies. Most individuals with NF1 develop plexiform neurofibromas and cutaneous neurofibromas, nerve tumors caused by NF1 loss of function in Schwann cells. Cell culture models and mouse models of NF1 are being used to test drug efficacy in preclinical trials, which led to Food and Drug Administration approval for use of MEK inhibitors to shrink most inoperable plexiform neurofibromas. This article details methods used for testing in preclinical models, and outlines newer models that may identify additional, curative, strategies.

摘要

神经纤维瘤病 1 型（NF1）是一种常见的显性遗传性疾病，也是 RAS 病中最常见的疾病之一。大多数 NF1 患者会出现丛状神经纤维瘤和皮肤神经纤维瘤，这是由施万细胞 NF1 功能丧失引起的神经肿瘤。NF1 的细胞培养模型和小鼠模型被用于在临床前试验中测试药物疗效，这导致了 FDA 批准使用 MEK 抑制剂来缩小大多数无法手术的丛状神经纤维瘤。本文详细介绍了临床前模型中使用的测试方法，并概述了可能识别出更多治疗策略的新型模型。