Spinal cord hemangioblastomas in von Hippel–Lindau disease

Abstract

Study Design: Retrospective data analysis. Objective: To clarify the clinical features and surgical management of spinal cord hemangioblastomas in patients with von Hippel-Lindau disease (VHL). Setting: Clinical VHL Research Group in Japan, Japan. Methods: Forty-eight out of 66 patients with associated spinal cord hemangioblastoma among 142 VHL patients were retrospectively examined with respect to clinical features, accompanying lesions and outcome of surgical treatment. Results: Among these 48 patients, 46 of them (95.8%) also had a central nervous system (CNS) hemangioblastoma at another site: 42 (87.5%) with cerebellar hemangioblastoma and 11 (22.9%) with brain stem hemangioblastoma. Twenty-three patients (47.9%) had more than one spinal cord hemangioblastoma. The 48 patients with spinal cord hemangioblastomas collectively had a total of 74 tumors. The tumor was accompanied with a syrinx in 64 and without it in 10 patients. Forty of the 48 patients underwent surgical treatment for their spinal cord hemangioblastomas, and 7 of these 40 underwent surgical treatment twice. When functional changes in the patients after these 47 operations were examined by postoperative evaluation by McCormick's classification, 39 of these operations (83.0%) resulted in improvement/no change and 8 (17.0%) in aggravation of symptoms. Conclusion: Von Hippel-Lindau disease patients bearing spinal cord hemangioblastomas mostly had a CNS hemangioblastoma at another site. These tumors can be removed in the majority of VHL patients without aggravation. In these patients, when the timing of treatment for spinal cord hemangioblastoma is determined, the probability of occurrence and treatment of other lesions should be considered.

Functional outcome after resection of spinal cord hemangioblastomas associated with von Hippel-Lindau disease

“…5,19,24,30 Two studies have analyzed only patients with VHL disease, but the mean follow-up duration did not exceed 4 years. 10,15 In the present study the mean follow-up duration was 7 years and 66% of patients had > 4 years of follow-up. During this period, most patients (85%) remained stable or improved.…”

“…Previous studies have identified tumor volume, anterior location, and the presence of peritumoral edema as predictors of poor surgical outcome. 10,15,25,27 Although we examined all of these factors, only tumor location significantly predicted outcome by multivariate analysis. Functional decline was associated with resection of ventral spinal cord hemangioblastomas, in which decline occurred after 3 of 11 resections for ventrally located tumors.…”

“…28 Because of the frequency of spinal cord hemangioblastomas in VHL disease, their incompletely defined natural history, and because they can cause significant neurological morbidity, treatment paradigms for preservation of neurological function must be optimized. Generally, the treatment of spinal cord hemangioblastomas has been resection, 3,5,9,10,15,19,24,26,29,30 but functional results and factors affecting outcome after resection of a spinal Functional outcome after resection of spinal cord hemangioblastomas associated with von Hippel-Lindau disease cord hemangioblastoma have not been determined in the context of VHL disease, in which patients are predisposed to develop multiple visceral malignancies and multiple CNS tumors. To define expected outcome, the long-term effects of surgery, and optimal treatment of patients with VHL disease and spinal cord hemangioblastomas, we evaluated the short-and long-term functional outcomes of a large series of patients with VHL disease who underwent resection of spinal cord hemangioblastomas and who were evaluated using serial clinical and radiographic examinations.…”

Acute Central Canal Dilatation After Minimally Invasive Lateral Cervical Decompression Through the Frykholm Approach

“…10 Additional spinal stenosis, spinal instabilities, spinal deformities, and tumors might cause syrinx formation. 11,12 In an MRI study of 794 asymptomatic adults, PetitLacour et al 13 found a visible central canal in 1.5% of all patients. The diameter ranged between 2 and 4 mm.…”

Von Hippel-Lindau mutations disrupt vascular patterning and maturation via Notch

“…In addition to elevated risk for ccRCC, 60%-80% of patients with VHL syndrome, including those with type 2B missense VHL mutations, will develop hemangioblastomas (3)(4)(5). These benign neoplasms are composed of proliferating endothelial and stromal cells that arise in the brain and brain stem, as well as the spinal cord and retina, and often result in catastrophic effects for patients due to their site of presentation (6). Among other functions, the ubiquitin E3 ligase substrate recognition activity of pVHL provides essential modulation of hypoxia-inducible factors (HIFs), which orchestrate transcription of downstream gene targets in proportion to tissue oxygen levels.…”