Friedrich Reinhard E, Nuding Michael A
Department of Oral and Cranio-Maxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany
Department of Oral and Cranio-Maxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.
Anticancer Res. 2016 Aug;36(8):4095-121.
Optic pathway glioma (OPG) is a rare neoplasm and a defining feature of neurofibromatosis type 1 (NF1), a tumor suppressor genetic disorder. OPG predominantly arises during childhood. In contrast to sporadic OPG, this neoplasm frequently appears to show a more favorable course. Outcome appears to depend on localization of tumor; however, the correlation of imaging findings and visual acuity is in general low. Treatment for symptomatic OPG is not well standardized. Furthermore, determination of visual acuity as the most important parameter of follow-up control is often difficult to determine, particularly in children. Focal abnormal signal intensity (FASI) is a characteristic finding on magnetic resonance imaging (MRI) of NF1 patients. The aim of this study was to evaluate clinical and imaging findings of NF1 patients affected with OPG.
Data of 925 NF1 patients with appropriate MRI cranial sectional images (N=1,948) were evaluated. A further 50 patients with cranial computed tomograms were included in the study. We compared imaging and clinical findings with respect to localization of OPG. Furthermore, we compared follow-up in treated individuals to those who were only regularly re-examined. The presence of FASI on MRI was determined and correlated to the occurrence of OPG. Dodge classification was applied to categorize OPG location.
OPG was diagnosed in 134 patients. The mean age of patients with symptomatic OPG was 7.6 years (n=57, 42.5%) and 11.6 years (n=77, 57.5%) in asymptomatic patients. The female to male ratio was about 1.1:1. In 48 symptomatic patients, the findings of initial ophthalmological investigations were available. In symptomatic patients, reduced visual acuity was the predominant finding. Strabismus (25%), exophthalmos (22.9%) and amblyopia (20.8%) were most frequently noticed, followed by endrocrinological abnormalities (14.6%). However, these findings did not differ between patients who were treated or who were subjected to a 'wait-and-see' policy. We could not verify an effect of therapy on vision in patients treated for OPG compared to symptomatic patients without treatment. OPG affecting the total optic pathway was more frequently diagnosed in symptomatic patients. FASI did not correlate with functional OPG status.
OPG in NF1 is symptomatic in slightly less than 50% of affected individuals. This neurological finding may show a wide range of symptoms. At present, no established treatment protocol emerges from the history of the patients of this study and also from the literature. Although the onset of symptomatic OPG is strongly associated with early childhood, late onset of symptomatic OPG is a feature of adult NF1. Research for association of FASI to neurological findings in these patients should be based on other issues than association with OPG.
视神经通路胶质瘤（OPG）是一种罕见肿瘤，是1型神经纤维瘤病（NF1）的特征性病变，NF1是一种肿瘤抑制基因疾病。OPG主要发生于儿童期。与散发性OPG不同，这种肿瘤通常表现出更有利的病程。预后似乎取决于肿瘤的定位；然而，影像学表现与视力之间的相关性总体较低。有症状的OPG的治疗尚未得到很好的标准化。此外，将视力作为随访控制的最重要参数往往难以确定，尤其是在儿童中。局灶性异常信号强度（FASI）是NF1患者磁共振成像（MRI）的特征性表现。本研究的目的是评估患有OPG的NF1患者的临床和影像学表现。
评估了925例有合适头颅MRI断层图像的NF1患者的数据（N = 1948）。另外50例有头颅计算机断层扫描的患者也纳入了研究。我们比较了OPG定位的影像学和临床发现。此外，我们比较了接受治疗的个体与仅定期复查的个体的随访情况。确定MRI上FASI的存在并将其与OPG的发生相关联。采用道奇分类法对OPG的位置进行分类。
134例患者被诊断为OPG。有症状的OPG患者的平均年龄为7.6岁（n = 57，42.5%），无症状患者为11.6岁（n = 77，57.5%）。男女比例约为1.1:1。48例有症状的患者有初始眼科检查结果。在有症状的患者中，视力下降是主要表现。斜视（25%）、眼球突出（22.9%）和弱视（20.8%）最为常见，其次是内分泌异常（14.6%）。然而，接受治疗的患者与采取“观察等待”策略的患者之间这些表现并无差异。与未治疗的有症状患者相比，我们无法证实治疗对OPG患者视力的影响。有症状的患者中更常诊断出影响整个视神经通路的OPG。FASI与功能性OPG状态无关。
NF1中的OPG在略少于50%的受影响个体中是有症状的。这种神经系统表现可能有广泛的症状。目前，从本研究患者的病史以及文献中均未出现既定的治疗方案。虽然有症状的OPG的发病与幼儿期密切相关，但有症状的OPG的晚发是成人NF1的一个特征。对这些患者中FASI与神经系统表现之间关联的研究应基于与OPG关联之外的其他问题。
