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.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4762041 | PMC |
http://dx.doi.org/10.3171/2014.1.JNS131431 | DOI Listing |
Pediatr Radiol
January 2025
Department of Pediatric Genetics, Istanbul University-Cerrahpaşa, Cerrahpasa Medical Faculty, 34098, Cerrahpasa, Istanbul, Turkey.
Background: Heterozygous TRPV4 mutations cause a group of skeletal dysplasias characterized by short stature, short trunk, and skeletal deformities.
Objective: The aim of this study is to compare the natural history of clinical and radiologic features of patients with different TRPV4-related skeletal dysplasias.
Materials And Methods: Thirteen patients with a mutation in TRPV4 were included in the study, and 11 were followed for a median of 6.
FASEB J
January 2025
Department of Obstetrics and Gynecology, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, 200011, China.
With the global rise in advanced maternal age (AMA) pregnancies, the risk of gestational diabetes mellitus (GDM) increases. However, few GDM prediction models are tailored for AMA women. This study aims to develop a practical risk prediction model for GDM in AMA women.
View Article and Find Full Text PDFJ Anim Ecol
January 2025
Section of Ecology, Department of Biology, University of Turku, Turku, Finland.
The hoarding behaviour of animals has evolved to reduce starvation risk when food resources are scarce, but effects of food limitation on survival of hoarding animals is poorly understood. Eurasian pygmy owls (Glaucidium passerinum) hoard small mammals and birds in natural cavities and nest boxes in late autumn for later use in the following winter. We studied the relative influence of the food biomass in hoards of pygmy owls on their over-winter and over-summer apparent survival.
View Article and Find Full Text PDFJ Neurooncol
January 2025
University of Virginia, Charlottesville, VA, USA.
Background: Even a gross total resection of a benign epidermoid tumor (ET) carries a high risk of recurrence. The management strategy mostly involves redo surgical excision but at a significant cost of morbidity and mortality. The role of adjuvant radiation therapies in this scenario is still undefined.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Earth and Environmental Sciences, University of Milano-Bicocca, Milan, Italy.
Aromia bungii is an invasive Cerambycidae of major concern at the global scale because of the damage caused to Rosaceae. Given the major phytosanitary relevance of A. bungii, predicting its spread in invaded areas and identifying possible new suitable regions worldwide remains a key action to develop appropriate management practices and optimise monitoring and early detection campaigns.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!