Neurofibromatosis Type 1 : A General Review.

IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY
Minhua Liao, Hsin-Lun Lee, Yen-Lin Liu, Tai-Tong Wong
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引用次数: 0

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal-dominant genetic disorder caused by pathogenic variants in the NF1 gene. Its clinical phenotype is heterogeneous and evolves across the lifespan; approximately 1 in 3,000 individuals worldwide are affected. Cardinal features comprise café-au-lait macules, axillary/inguinal freckling, cutaneous neurofibromas, plexiform neurofibromas, and optic-pathway gliomas. Advanced molecular diagnostics-including next-generation sequencing (NGS) and RNA sequencing-have markedly improved mutation detection rates and facilitate definitive diagnosis. Therapeutic progress has also accelerated: the U.S. FDA has approved the MEK inhibitors selumetinib and mirdametinib for the treatment of plexiform neurofibromas, and these agents may offer benefit for additional NF1-related manifestations. The disorder further compromises skeletal integrity, neurocognitive function, and confers an increased risk of malignancy. This review highlights the necessity for multidisciplinary care of individuals with NF1, with emphasis on early diagnosis, age-stratified health-surveillance suggestion from infancy through adulthood, cancer-prevention strategies, and comprehensive genetic counseling, all aimed at mitigating complications and enhancing quality of life.

1型神经纤维瘤病:综述。
1型神经纤维瘤病(NF1)是一种常染色体显性遗传疾病,由NF1基因的致病变异引起。其临床表型是异质性的,并在整个生命周期中不断进化;全世界大约每3000人中就有1人受到影响。主要的特征包括卡萨梅-au- lae斑疹,腋窝/腹股沟雀斑,皮肤神经纤维瘤,网状神经纤维瘤和光通路胶质瘤。先进的分子诊断——包括下一代测序(NGS)和RNA测序——显著提高了突变检出率,促进了明确的诊断。治疗进展也加快了:美国FDA批准了MEK抑制剂selumetinib和mirdametinib用于丛状神经纤维瘤的治疗,这些药物可能对nf1相关的其他表现有好处。这种疾病进一步损害骨骼完整性、神经认知功能,并增加恶性肿瘤的风险。本综述强调了对NF1患者进行多学科护理的必要性,强调早期诊断,从婴儿期到成年期分层健康监测建议,癌症预防策略和综合遗传咨询,所有这些都旨在减轻并发症和提高生活质量。
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来源期刊
CiteScore
2.90
自引率
6.20%
发文量
109
审稿时长
3-8 weeks
期刊介绍: The Journal of Korean Neurosurgical Society (J Korean Neurosurg Soc) is the official journal of the Korean Neurosurgical Society, and published bimonthly (1st day of January, March, May, July, September, and November). It launched in October 31, 1972 with Volume 1 and Number 1. J Korean Neurosurg Soc aims to allow neurosurgeons from around the world to enrich their knowledge of patient management, education, and clinical or experimental research, and hence their professionalism. This journal publishes Laboratory Investigations, Clinical Articles, Review Articles, Case Reports, Technical Notes, and Letters to the Editor. Our field of interest involves clinical neurosurgery (cerebrovascular disease, neuro-oncology, skull base neurosurgery, spine, pediatric neurosurgery, functional neurosurgery, epilepsy, neuro-trauma, and peripheral nerve disease) and laboratory work in neuroscience.
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