Neoplasma. 2013;60(6):655-65. doi: 10.4149/neo_2013_084.
Optic pathway gliomas (OPG) occur in 15% of patients with neurofibromatosis type 1 (NF1; OMIM 162200). Genotype-phenotype correlations in patients with NF1 may help to determine the risk group for developing complications such as OPG in coincidence with other NF1.features. We evaluated 52 patients with NF1 (25 with OPG and 27 without OPG). All subjects underwent a clinical examination focused on neurofibromatosis type 1 and molecular diagnostics of NF1 gene using protocol based on RNA analysis confirming the diagnosis of NF1. In the group with OPG patients, there was a significantly higher incidence of freckling (P=0.017), neurofibromatosis bright objects (NBO) (P=0.0038), compared to the group without OPG. The differences between the groups with respect to Lisch nodules were on the borderline of statistical significance (P=0.088). The frequency of neurofibromas in the group with OPG was not significant (P=0.9). From all patients with the mutation localized in the first tertile of the NF1 gene majority (71%) had optic glioma compared to individuals who didn't have the OPG 29% (P=0.0049). Our results present the clustering of mutations in the 5'tertile of NF1 gene in patients with optic nerve glioma and suggest higher incidence of freckling and neurofibromatosis brain objects in these patients. Molecular analysis of NF1 gene is important part in complex management of NF1 patients and contributes to a better understanding of clinical picture of NF1 patients. .
视神经胶质瘤(optic pathway gliomas, OPG)发生于 15%的神经纤维瘤病 1 型 (neurofibromatosis type 1, NF1; OMIM 162200) 患者中。NF1 患者的基因型-表型相关性有助于确定并发 OPG 等 NF1 相关并发症的风险群体。我们评估了 52 例 NF1 患者（25 例伴 OPG，27 例不伴 OPG）。所有患者均接受了神经纤维瘤病 1 型的临床检查，并进行了 NF1 基因的分子诊断，使用基于 RNA 分析的方案，该方案确认了 NF1 的诊断。在伴 OPG 患者组中，雀斑（P=0.017）和神经纤维瘤病亮区（neurofibromatosis bright objects, NBO）（P=0.0038）的发生率明显更高，与不伴 OPG 患者组相比。伴有 Lisch 结节的两组之间的差异具有统计学意义的边界（P=0.088）。伴 OPG 患者组神经纤维瘤的频率无显著差异（P=0.9）。在所有具有 NF1 基因突变定位于基因第一三分位的患者中，有 71%的患者伴有视神经胶质瘤，而不伴有 OPG 的患者为 29%（P=0.0049）。我们的结果表明，视神经胶质瘤患者的 NF1 基因 5'端存在突变聚类，并提示这些患者雀斑和神经纤维瘤病脑区的发生率更高。NF1 基因的分子分析是 NF1 患者综合管理的重要组成部分，有助于更好地理解 NF1 患者的临床表现。
