KRAS 相关神经纤维瘤病型 Noonan 综合征中脊髓神经根增大的又一例。
Further case of enlarged spinal nerve roots in KRAS-related Noonan syndrome.
机构信息
Department of Woman and Child Health and Public Health, Center for Rare Diseases and Birth Defects, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome (RM), Italy.
UOC Radiologia e Neuroradiologia, Dipartimento di Diagnostica per Immagini, Radioterapia Oncologica ed Ematologia, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome (RM), Italy.
出版信息
Clin Genet. 2023 Jul;104(1):136-138. doi: 10.1111/cge.14308. Epub 2023 Feb 21.
Noonan syndrome (NS) belongs to RASopathies, a family of disorders caused by unregulated signaling through the RAS-MAPK pathway. Herein, we report on an individual with molecularly confirmed diagnosis of NS showing asymptomatic enlarged spinal nerve roots, which are distinctive features of neurofibromatosis type 1. To date, a total of 16 patients with neurogenic tumors resembling neurofibromas/schwannomas and a molecularly confirmed diagnosis of a non-NF1 RASopathy have been reported, adding this further feature shared among RASopathies.
努南综合征（Noonan syndrome，NS）属于 RAS 通路病（RASopathies），是一组由于 RAS-MAPK 通路信号调节异常引起的疾病。本文报告了一例分子确诊为 NS 的患者，其表现为无症状性增大的脊神经根，这是神经纤维瘤病 1 型（neurofibromatosis type 1，NF1）的特征性表现。迄今为止，已经有 16 例具有神经源性肿瘤特征（类似于神经纤维瘤/神经鞘瘤）且分子确诊为非 NF1 RAS 通路病的患者被报道，这进一步提示了 RAS 通路病的一个共同特征。
Zotero 插件