Marjańska Agata, Styczyńska Jagoda, Jatczak-Gaca Agnieszka, Stachura Joanna, Marjański Michał, Styczyński Jan
Department of Pediatric Hematology and Oncology, Collegium Medicum, Nicolaus Copernicus University Torun, Jurasz University Hospital, 85-095 Bydgoszcz, Poland.
Department of Ophthalmology, Collegium Medicum, Nicolaus Copernicus University Torun, Jurasz University Hospital, 85-095 Bydgoszcz, Poland.
Cancers (Basel). 2025 Apr 23;17(9):1404. doi: 10.3390/cancers17091404.
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. 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. 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. 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.
在与神经纤维瘤病1型（NF1）相关的肿瘤中，最常见的是视神经通路胶质瘤（OPG）。本研究的目的是对NF1-OPG的病程、治疗指征及治疗效果进行回顾性分析。我们分析了92例患者的人口统计学、临床和基因数据、影像学及眼科参数、它们对治疗决策的影响以及治疗效果。55.4%的患者OPG为单侧，44.6%为双侧。67.4%的患者在磁共振成像（MRI）上可见增强后强化。16.3%的患者需要进行肿瘤治疗，中位年龄为3.8岁。多因素分析中导致需要进行肿瘤治疗的显著因素为：弱视和眼球突出。导致弱视的因素为：斜视、眼球突出、癫痫并存、双侧OPG以及视神经厚度≥8mm。肿瘤治疗的一线方案包括长春新碱+卡铂或长春花碱单药治疗。46.7%的患者需要使用后续的肿瘤治疗方案。以下结论建议对NF1-OPG患者的管理方法进行调整，总结了本研究：（1）在1岁以后进行首次MRI检查；（2）对于视神经眼内段和/或眶内段孤立受累的患者，在观察的第一年减少随访扫描的频率；（3）在OPG诊断后，眼眶MRI对照检查时不使用造影剂；（4）对于并存精神运动发育迟缓或接受抗癫痫药物治疗的患者，在视力下降且光学相干断层扫描（OCT）、视觉诱发电位（VEP）和MRI无进展时，不做出肿瘤治疗的决策。
