Alvarez Reinier, Mastorakos Panagiotis, Hogan Elizabeth, Scott Gretchen, Lonser Russell R, Wiley Henry E, Chew Emily Y, Chittiboina Prashant
Neurosurgery Unit for Pituitary and Inheritable Diseases, National Institute of Neurological Disorders and Stroke, Bethesda, Maryland.
Florida International University Herbert Wertheim College of Medicine, Miami, Florida.
Neurosurgery. 2021 Apr 15;88(5):1012-1020. doi: 10.1093/neuros/nyaa565.
Retrobulbar hemangioblastomas involving the optic apparatus in patients with von Hippel-Lindau disease (VHL) are rare, with only 25 reported cases in the literature.
To analyze the natural history of retrobulbar hemangioblastomas in a large cohort of VHL patients in order to define presentation, progression, and management.
Clinical history and imaging of 250 patients with VHL in an ongoing natural history trial and 1774 patients in a neurosurgical protocol were reviewed. The clinical course, magnetic resonance images, treatment, and outcomes were reviewed for all included patients.
A total of 18 patients with retrobulbar hemangioblastoma on surveillance magnetic resonance imaging met the inclusion criteria for this study. Of the 17 for whom clinical information was available, 10 patients presented with symptoms related to the hemangioblastoma, and 7 were asymptomatic. The mean tumor volume was larger for symptomatic (810.6 ± 545.5 mm3) compared to asymptomatic patients (307.6 ± 245.5 mm3; P < .05). A total of 5 of the symptomatic patients were treated surgically and all experienced improvement in their symptoms. All 3 symptomatic patients that did not undergo intervention had continued symptom progression. Long-term serial imaging on asymptomatic patients showed that these tumors can remain radiographically stable and asymptomatic for extended periods of time (101.43 ± 71 mo).
This study suggests that retrobulbar hemangioblastomas may remain stable and clinically asymptomatic for long durations. Recent growth and larger tumor volume were associated with symptom occurrence. Surgical treatment of symptomatic retrobulbar hemangioblastomas can be safe and may reverse the associated symptoms.
在冯·希佩尔-林道病（VHL）患者中，累及视器的球后成血管细胞瘤很罕见，文献中仅报道了25例。
分析一大群VHL患者中球后成血管细胞瘤的自然病史，以明确其表现、进展和治疗方法。
回顾了正在进行的自然病史试验中250例VHL患者以及神经外科治疗方案中的1774例患者的临床病史和影像学资料。对所有纳入患者的临床病程、磁共振成像、治疗及结果进行了回顾。
共有18例在监测磁共振成像时发现球后成血管细胞瘤的患者符合本研究的纳入标准。在有临床信息的17例患者中，10例出现了与成血管细胞瘤相关的症状，7例无症状。有症状患者的平均肿瘤体积（810.6±545.5 mm³）大于无症状患者（307.6±245.5 mm³；P<0.05）。共有5例有症状患者接受了手术治疗，所有患者症状均有改善。所有3例未接受干预的有症状患者症状持续进展。对无症状患者的长期系列成像显示，这些肿瘤在很长一段时间内（101.43±71个月）在影像学上可保持稳定且无症状。
本研究表明，球后成血管细胞瘤可能长期保持稳定且无临床症状。近期生长及较大的肿瘤体积与症状出现相关。有症状的球后成血管细胞瘤手术治疗可安全有效，且可能逆转相关症状。
