Central Nervous System Hemangioblastoma: Difference in Clinical Picture of Sporadic Cases and von-Hippel Lindau Disease in 184 Cases

Introduction: Central nervous system hemangioblastoma (CNS HGB) is a rare neoplasm, which predominantly arises in the posterior fossa and spinal cord. The etiology is divided into sporadic and von-Hippel Lindau (VHL) disease. There has been a collection of knowledge about the clinical behavior about VHL HGB in the literature, but the difference of clinical picture of these 2 types of HGB and differentiation of treatment have not been extensively unraveled yet.

Methods: Retrospective analysis of consecutive, neurosurgically managed CNS HGB at Mayo Clinic, 1988–2018.

Results: A total of 117 sporadic and 67 VHL HGBs were treated by Mayo Clinic. No significant difference in sex was observed. VHL cases were younger than sporadic cases (51.7 vs. 35.7 years old, p < 0.0001), had multiple lesions at presentation more frequently (2.63 vs. 49.3%, p < 0.0001), more family history (0 vs. 42.1%, p < 0.0001), higher number of surgeries per case in the follow-up (1.3 vs. 2.1, p < 0.0001), and higher frequency of genetic alteration (0 vs. 84.2%, p < 0.0001; Fig. 1). 134 and 110 surgeries were performed for sporadic and VHL cases, respectively, among which the indication of surgery was preventative in 8.5 and 24.5%, respectively (p = 0.001). 147 sporadic and 177 VHL HGB lesions were treated surgically or with radiation, and the volume was larger in the former; total volume was 15.1 versus 6.6 cc (p < 0.0001), volume of the solid portion was 7.1 versus 2.7 cc (p = 0.003), and the volume of cystic portion was 11.7 and 8.5 cc (p = 0.39), respectively (Fig. 2). It was more common for sporadic lesions to contain cysts than VHL (72.2 vs. 53.3%, p = 0.002) and the solid portion rate in the entire lesion was larger in VHL lesions (60.2 vs. 69.5%, p = 0.02). Treatment-free survival of sporadic cases was significantly longer than that of VHL cases (p = 0.006; Fig. 3A) and overall survival was longer in sporadic cases than VHL, but not significant (p = 0.07; Fig. 3B).

Conclusion: Clinical presentation and tumor appearance on imaging are highly dependent on the etiology. The present analysis demonstrates that indication for VHL HGB surgeries was more preventative, sporadic HGB lesions were larger, it was more frequent to have cysts for sporadic HGB, and treatment-free survival was shorter in VHL HGB. Differences in clinical manifestations require further study, but may reflect contrasting tumor biology that are tied to genetic differences.