Background/Aim:Among NF1-dependent tumors, the most common are optic pathway gliomas (OPGs). The objective of this study was the retrospective analysis of the course, indications for treatment, and effects of therapy for NF1-OPGs.Patients and Methods:We analyzed demographics, clinical and genetic data, imaging and ophthalmological parameters, their impact on therapeutic decisions, and the effectiveness of the therapy in 92 patients.Results:OPGs were unilateral in 55.4% of patients and bilateral in 44.6%. Post-contrast enhancement in MRI was observed in 67.4%. Oncological treatment was required in 16.3% of patients with median age 3.8 years. Factors significant in multivariate analysis contributing to the need of oncological treatment were: amblyopia and proptosis. Factors contributing to amblyopia were: strabismus, proptosis, co-occurrence of epilepsy, bilateral OPGs, and thickness of the optic nerve ≥ 8 mm. The first line of oncological treatment included vincristine + carboplatin or monotherapy with vinblastine. The use of subsequent lines of oncological treatment was necessary in 46.7% patients.Conclusions:The following conclusions, suggest modification of the approach in the management of patients with NF1-OPG, summarize the presented study: (1) perform the first MRI after the age of 1 year, (2) reduce the frequency of follow-up scans in the first year of observation in patients with isolated involvement of intraocular and/or intraorbital segments of the optic nerve, (3) refrain from administering contrast during control MRI examinations of the orbits after OPG diagnosis; (4) in patients with co-occurring psychomotor delay or treated with antiepileptic drugs, do not make decisions about oncological therapy when visual acuity deterioration is observed, without progression in optical coherence tomography (OCT), visual evoked potentials (VEP), and MRI.
背景/目的：在神经纤维瘤病1型（NF1）相关肿瘤中，最常见的是视路胶质瘤（OPGs）。本研究旨在回顾性分析NF1相关视路胶质瘤的病程、治疗指征及治疗效果。 患者与方法：我们分析了92例患者的人口统计学、临床与遗传学数据、影像学及眼科参数，评估了这些因素对治疗决策的影响以及治疗的有效性。 结果：55.4%的患者为单侧视路胶质瘤，44.6%为双侧。67.4%的患者在磁共振成像中观察到对比增强。16.3%的患者需要接受肿瘤治疗，中位年龄为3.8岁。多变量分析显示，导致需要肿瘤治疗的重要因素包括弱视和眼球突出。导致弱视的因素包括斜视、眼球突出、癫痫共病、双侧视路胶质瘤以及视神经厚度≥8毫米。一线肿瘤治疗方案包括长春新碱+卡铂或长春碱单药治疗。46.7%的患者需要接受后续治疗。 结论：本研究总结出以下结论，建议对NF1相关视路胶质瘤患者的管理方法进行调整：（1）首次磁共振成像应在1岁后进行；（2）对于仅累及视神经眼内段和/或眶内段的患者，在观察的第一年内减少随访扫描频率；（3）在视路胶质瘤诊断后的眼眶磁共振随访检查中避免使用对比剂；（4）对于伴有精神运动发育迟缓或正在接受抗癫痫药物治疗的患者，当观察到视力下降但光学相干断层扫描、视觉诱发电位和磁共振成像均无进展时，不应决定进行肿瘤治疗。
Predictors in Optic Pathway Gliomas in Neurofibromatosis Type 1: A Single Center Study
肿瘤(癌症)患者之家