Neurofibromatosis type 1.
Neurofibromatosis type 1.
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DOI：
10.1016/b978-0-444-64076-5.00051-x
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发表时间：
2018-01-01
影响因子：
--
通讯作者：
Gutmann, David H
中科院分区：
文献类型：
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作者：
Cimino, Patrick J;Gutmann, David H
神经纤维瘤病是一组三种异质性疾病，包括1型神经纤维瘤病（NF 1），2型神经纤维瘤病（NF 2）和神经鞘瘤病。NF1是这三种情况中最常见的，并且是涉及神经系统的最常诊断的癌症易感性疾病之一。虽然NF1主要影响中枢和外周神经系统，但多系统受累是规律，经常报告皮肤病，心血管病，胃肠道和整形外科的影响。重要的是，NF1是一种异质性疾病，即使在同一家族中，受影响的个体也可能受到多重影响。这种异质性也对有效治疗的实现提出了重大挑战。然而，最近的研究旨在了解NF 1蛋白（神经纤维蛋白）作为肿瘤抑制因子的作用，揭示了这种深刻的临床异质性水平可能反映了组织和区域特异性效应，性二态性影响以及生殖系遗传学和基因组学的贡献。随着精确的临床前NF1小动物模型，人类诱导多能干细胞和有效的临床试验联盟的可用性，我们现在处于独特的地位，以确定和有效地评估有前途的治疗NF1相关的医疗问题。
The neurofibromatoses are a group of three heterogeneous disorders that include neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. NF1 is the most common of these three conditions, and represents one of the most frequently diagnosed cancer predisposition disorders involving the nervous system. While NF1 primarily affects the central and peripheral nervous system, multisystem involvement is the rule, with dermatologic, cardiovascular, gastrointestinal, and orthopedic affectation often reported. Importantly, NF1 is a disorder of heterogeneity, such that affected individuals can be variably affected, even within the same family. This heterogeneity also presents significant challenges to the actualization of effective treatments. However, recent studies aimed at understanding the role of the NF1 protein (neurofibromin) as a tumor suppressor have revealed that this profound level of clinical heterogeneity may reflect tissue and region-specific effects, sexually dimorphic influences, and the contribution of germline genetics and genomics. With the availability of accurate preclinical Nf1 small-animal models, human induced pluripotent stem cells, and an efficient clinical trials consortium, we are now uniquely positioned to identify and efficiently evaluate promising therapies for NF1-related medical problems.