神经纤维瘤病 1 型的诊断与管理。
The Diagnosis and Management of Neurofibromatosis Type 1.
机构信息
Stephen E. and Catherine Pappas Center for Neuro-Oncology, Massachusetts General Hospital, Yawkey 9 East, 55 Fruit Street, Boston, MA 02114, USA.
Department of Neurology and Neurosurgery, Johns Hopkins University, 600 North Wolfe Street, Meyer 100, Baltimore, MD 21287, USA; Department of Oncology, Johns Hopkins University, 600 North Wolfe Street, Meyer 100, Baltimore, MD 21287, USA.
出版信息
Med Clin North Am. 2019 Nov;103(6):1035-1054. doi: 10.1016/j.mcna.2019.07.004.
Neurofibromatosis type 1 (NF1), NF2, and schwannomatosis are related, but distinct, tumor suppressor syndromes characterized by a predilection for tumors in the central and peripheral nervous systems. NF1 is one of the most common autosomal dominant conditions of the nervous system. NF1 has a high degree of variability in clinical presentation, which may include multiple neoplasms as well as cutaneous, vascular, bony, and cognitive features. Some of these manifestations overlap with other genetic conditions. Accurate diagnosis of NF1 is important for individualizing clinical care and genetic counseling. This article summarizes the clinical features, diagnostic work-up, and management of NF1.
神经纤维瘤病 1 型（NF1）、NF2 和神经鞘瘤病是相关但不同的肿瘤抑制综合征，其特征是中枢神经系统和周围神经系统肿瘤易感性。NF1 是最常见的神经系统常染色体显性遗传疾病之一。NF1 在临床表现上具有高度的可变性，可能包括多种肿瘤以及皮肤、血管、骨骼和认知特征。其中一些表现与其他遗传疾病重叠。NF1 的准确诊断对于个性化临床护理和遗传咨询非常重要。本文总结了 NF1 的临床特征、诊断评估和管理。
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