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Prospective natural history study of central nervous system hemangioblastomas in von Hippel-Lindau disease.
J Neurosurg. 2014 May; 120(5):1055-62.JN

Abstract

OBJECT

The tumors most frequently associated with von Hippel-Lindau (VHL) disease are hemangioblastomas. While they are associated with significant neurological impairment and mortality, their natural history and optimal management have not been fully defined.

METHODS

Patients with VHL were enrolled in a prospective study designed to define the natural history of CNS hemangioblastomas. In the present analysis, serial imaging, laboratory, genetic, and clinical data were evaluated in those with at least 2 years of follow-up data.

RESULTS

At study entrance 225 patients (111 males, 114 females) harbored 1921 CNS hemangioblastomas in the supratentorial compartment (21 tumors [1%]), cerebellum (865 [45%]), brainstem (129 [7%]), spinal cord (689 [36%]), cauda equina (212 [11%]), and nerve roots (5 [0.3%]; follow-up 15,819 hemangioblastoma-years). Increased tumor burden was associated with partial deletions in the VHL gene (p = 0.005) and male sex (p = 0.002). Hemangioblastoma development (median 0.3 new tumors/year) was associated with younger age (p < 0.0001) and more tumors at study entrance (p < 0.0001). While 1278 hemangioblastomas (51%) did not grow, 1227 hemangioblastomas (49%) grew in a saltatory (886 [72%]), linear (76 [6%]), or exponential (264 [22%]) pattern. Faster tumor growth was associated with male sex (p = 0.001), symptomatic tumors (p < 0.0001), and tumors associated with cysts (p < 0.0001). Location-dependent tumor size was the primary predictor of eventual symptom formation (159 symptomatic tumors [6.3%]; area under the curve > 0.9).

CONCLUSIONS

Central nervous system hemangioblastoma burden in VHL is associated with partial germline deletions and male sex. Unpredictable growth of hemangioblastomas compromises assessment of nonsurgical therapies. The judicious treatment of symptom-producing hemangioblastomas, while avoiding unnecessary treatment of asymptomatic tumors that may not progress, can provide clinical stability.

Authors+Show Affiliations

Surgical Neurology Branch and.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Clinical Trial
Journal Article
Research Support, N.I.H., Intramural

Language

eng

PubMed ID

24579662

Citation

Lonser, Russell R., et al. "Prospective Natural History Study of Central Nervous System Hemangioblastomas in Von Hippel-Lindau Disease." Journal of Neurosurgery, vol. 120, no. 5, 2014, pp. 1055-62.
Lonser RR, Butman JA, Huntoon K, et al. Prospective natural history study of central nervous system hemangioblastomas in von Hippel-Lindau disease. J Neurosurg. 2014;120(5):1055-62.
Lonser, R. R., Butman, J. A., Huntoon, K., Asthagiri, A. R., Wu, T., Bakhtian, K. D., Chew, E. Y., Zhuang, Z., Linehan, W. M., & Oldfield, E. H. (2014). Prospective natural history study of central nervous system hemangioblastomas in von Hippel-Lindau disease. Journal of Neurosurgery, 120(5), 1055-62. https://doi.org/10.3171/2014.1.JNS131431
Lonser RR, et al. Prospective Natural History Study of Central Nervous System Hemangioblastomas in Von Hippel-Lindau Disease. J Neurosurg. 2014;120(5):1055-62. PubMed PMID: 24579662.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prospective natural history study of central nervous system hemangioblastomas in von Hippel-Lindau disease. AU - Lonser,Russell R, AU - Butman,John A, AU - Huntoon,Kristin, AU - Asthagiri,Ashok R, AU - Wu,Tianxia, AU - Bakhtian,Kamran D, AU - Chew,Emily Y, AU - Zhuang,Zhengping, AU - Linehan,W Marston, AU - Oldfield,Edward H, Y1 - 2014/02/28/ PY - 2014/3/4/entrez PY - 2014/3/4/pubmed PY - 2014/7/22/medline SP - 1055 EP - 62 JF - Journal of neurosurgery JO - J Neurosurg VL - 120 IS - 5 N2 - OBJECT: The tumors most frequently associated with von Hippel-Lindau (VHL) disease are hemangioblastomas. While they are associated with significant neurological impairment and mortality, their natural history and optimal management have not been fully defined. METHODS: Patients with VHL were enrolled in a prospective study designed to define the natural history of CNS hemangioblastomas. In the present analysis, serial imaging, laboratory, genetic, and clinical data were evaluated in those with at least 2 years of follow-up data. RESULTS: At study entrance 225 patients (111 males, 114 females) harbored 1921 CNS hemangioblastomas in the supratentorial compartment (21 tumors [1%]), cerebellum (865 [45%]), brainstem (129 [7%]), spinal cord (689 [36%]), cauda equina (212 [11%]), and nerve roots (5 [0.3%]; follow-up 15,819 hemangioblastoma-years). Increased tumor burden was associated with partial deletions in the VHL gene (p = 0.005) and male sex (p = 0.002). Hemangioblastoma development (median 0.3 new tumors/year) was associated with younger age (p < 0.0001) and more tumors at study entrance (p < 0.0001). While 1278 hemangioblastomas (51%) did not grow, 1227 hemangioblastomas (49%) grew in a saltatory (886 [72%]), linear (76 [6%]), or exponential (264 [22%]) pattern. Faster tumor growth was associated with male sex (p = 0.001), symptomatic tumors (p < 0.0001), and tumors associated with cysts (p < 0.0001). Location-dependent tumor size was the primary predictor of eventual symptom formation (159 symptomatic tumors [6.3%]; area under the curve > 0.9). CONCLUSIONS: Central nervous system hemangioblastoma burden in VHL is associated with partial germline deletions and male sex. Unpredictable growth of hemangioblastomas compromises assessment of nonsurgical therapies. The judicious treatment of symptom-producing hemangioblastomas, while avoiding unnecessary treatment of asymptomatic tumors that may not progress, can provide clinical stability. SN - 1933-0693 UR - https://www.unboundmedicine.com/medline/citation/24579662/Prospective_natural_history_study_of_central_nervous_system_hemangioblastomas_in_von_Hippel_Lindau_disease_ L2 - https://thejns.org/doi/10.3171/2014.1.JNS131431 DB - PRIME DP - Unbound Medicine ER -