The Diagnosis and Management of Neurofibromatosis Type 1

被引：141

作者：

Ly, K. Ina ^{[1
]}

Blakeley, Jaishri O. ^{[2
,3
]}

机构：

[1] Massachusetts Gen Hosp, Stephen E & Catherine Pappas Ctr Neurooncol, Yawkey 9 East,55 Fruit St, Boston, MA 02114 USA

[2] Johns Hopkins Univ, Dept Neurol & Neurosurg, 600 North Wolfe St,Meyer 100, Baltimore, MD 21287 USA

[3] Johns Hopkins Univ, Dept Oncol, 600 North Wolfe St,Meyer 100, Baltimore, MD 21287 USA

来源：

MEDICAL CLINICS OF NORTH AMERICA | 2019年 / 103卷 / 06期

关键词：

Neurofibromatosis type 1; Tumor predisposition syndrome; Nervous system; RASopathy; Plexiform neurofibroma; Cutaneous neurofibroma; PERIPHERAL-NERVE SHEATH; GENOTYPE-PHENOTYPE CORRELATION; OPTIC PATHWAY GLIOMAS; WHOLE-BODY MRI; VONRECKLINGHAUSEN NEUROFIBROMATOSIS; CUTANEOUS NEUROFIBROMAS; ATYPICAL NEUROFIBROMAS; NF1; PHENOTYPE; TUMORS; MUTATIONS;

D O I：

10.1016/j.mcna.2019.07.004

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：1035 / +

页数：22

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