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Keywords: Von Hippel-Lindau
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Journal Article
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Shunsaku Takayanagi and others
Neuro-Oncology Practice, npaf042, https://doi.org/10.1093/nop/npaf042
Published: 27 April 2025
... (HBs) are biologically benign, their management is often complicated, particularly in the context of von HippelLindau disease (VHL). Few studies have investigated treatment outcomes of both VHL-related sporadic HBs in detail. This study assessed the clinical characteristics and neurosurgical outcomes...
Journal Article
Xiaoxue Chen and others
JCEM Case Reports, Volume 3, Issue 5, May 2025, luaf055, https://doi.org/10.1210/jcemcr/luaf055
Published: 10 April 2025
..., The magnetic resonance imaging (MRI) of the head. The arrows show the lesion in bilateral cerebellar bulbar cisterna. C, The magnetic resonance imaging (MRI) of the thoracic vertebrae. The arrows show the lesion in the thoracic vertebrae. Pituitary adenomas rarely occur in the setting of von Hippel-Lindau...
Journal Article
Michael N Trinh and others
The Oncologist, Volume 30, Issue 3, March 2025, oyaf015, https://doi.org/10.1093/oncolo/oyaf015
Published: 10 March 2025
... otherwise healthy individuals with “incidental” Von Hippel Lindau (VHL) disease. These patients were found to have pathogenic germline variants in the VHL gene, after undergoing genetic testing for other purposes (5 for familial breast cancer risk and 1 to determine ancestry) but no VHL disease...
Journal Article
Johannes Wach and others
Neuro-Oncology, noaf041, https://doi.org/10.1093/neuonc/noaf041
Published: 15 February 2025
... Graphical Abstract complete resection multicenter study neurological outcomes progression-free survival spinal hemangioblastomas von HippelLindau disease Johannes Wach and Alim Emre Basaran contributed equally to this work...
Journal Article
Bukola A Olarewaju and others
Journal of Surgical Case Reports, Volume 2024, Issue 10, October 2024, rjae619, https://doi.org/10.1093/jscr/rjae619
Published: 05 October 2024
... RH , Glasker S . The first prospective trial for Von Hippel-Lindau disease: pazopanib . Lancet Oncol 2018 ; 19 : 1267 – 9 . 10.1016/S1470-2045(18)30533-3 . 5. Zamarud A , Marianayagam NJ , Park DJ , et al. The outcome of central nervous system hemangioblastomas...
Journal Article
Katelin Magnan and others
JCEM Case Reports, Volume 2, Issue 9, September 2024, luae160, https://doi.org/10.1210/jcemcr/luae160
Published: 09 September 2024
.... The majority of these tumors are nonmetastatic, with complete cure achieved through surgical resection. PPGLs have been associated with several hereditary cancer syndromes, including von Hippel-Lindau (VHL). We present the case of a 10-year-old patient with VHL and a history of 2 asynchronous pheochromocytomas...
Journal Article
Michael Tang and Shumei Meng
JCEM Case Reports, Volume 2, Issue 6, June 2024, luae097, https://doi.org/10.1210/jcemcr/luae097
Published: 21 June 2024
..., pancreatic cysts, and a renal cyst. The endocrinology service was consulted for possible PCCs associated with von Hippel-Lindau disease (VHL). Serum and urine normetanephrine levels were elevated despite the lack of overt PCCs/PGLs seen on magnetic resonance imaging and magnetic resonance angiography...
Journal Article
Marie Muller and others
The Journal of Clinical Endocrinology & Metabolism, Volume 110, Issue 4, April 2025, Pages e1160–e1166, https://doi.org/10.1210/clinem/dgae310
Published: 06 May 2024
...-rights ) Abstract Context Von Hippel-Lindau disease (VHL) is a rare, autosomal-dominant hereditary cancer-predisposition syndrome caused by germline pathogenic variants (PVs) in the VHL gene. It is associated with a high penetrance of benign and malignant vascular tumors in multiple organs...
Journal Article
Daniel C Kreatsoulas and Russell R Lonser
Neuro-Oncology Advances, Volume 6, Issue Supplement_3, October 2024, Pages iii66–iii72, https://doi.org/10.1093/noajnl/vdad153
Published: 13 February 2024
... service via the Permissions link on the article page on our site—for further information please contact [email protected]. Abstract Background von Hippel-Lindau disease (VHL) is an autosomal dominant familial neoplasia syndrome. The most common manifestation of VHL is central nervous system...
Journal Article
Juan David Vásquez Montoya and others
BJR|Case Reports, Volume 10, Issue 2, March 2024, uaae007, https://doi.org/10.1093/bjrcr/uaae007
Published: 12 February 2024
...) is an uncommon, benign, non-meningothelial, mesenchymal tumour of unclear origin. Most are associated with von Hippel-Lindau (VHL) syndrome (71%), and only 40 cases have been reported in the medical literature. Most of the patients develop non-specific visual symptoms, including decreased visual acuity...
Journal Article
Adam Serghini and others
Human Molecular Genetics, Volume 33, Issue 3, 1 February 2024, Pages 224–232, https://doi.org/10.1093/hmg/ddad181
Published: 26 October 2023
...-specific MTR percentiles 5th, 25th, 50th, and neutrality. Corresponding author. D.B.A. Chemistry Building 68, Cooper Road, The University of Queensland, St Lucia, QLD 4067, Australia. E-mail: [email protected] . Von Hippel-Lindau VHL clear cell renal cell carcinoma ccRCC machine learning National...
Journal Article
Sharon Baughman Shively and others
Journal of Neuropathology & Experimental Neurology, Volume 81, Issue 11, November 2022, Pages 885–899, https://doi.org/10.1093/jnen/nlac073
Published: 18 August 2022
... and the Purkinje layer to form the molecular layer ( 28 ). von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary cancer disorder, affecting approximately 1 in 35 000 persons ( 1 ). These patients inherit one dysfunctional copy of the VHL tumor suppressor gene (3p25-26), rendering them...
Journal Article
Myrthe R Naber and others
Journal of the Endocrine Society, Volume 6, Issue 2, February 2022, bvab191, https://doi.org/10.1210/jendso/bvab191
Published: 22 December 2021
... flow and timing were regarded as unclear, because only 23 out of 28 VHL patients were analyzed for the biomarkers VIP and PP. Characteristics of all included studies can be found in Table 4 . Von Hippel-Lindau (VHL) disease is a genetic disorder characterized by the growth of cysts and tumors...
Journal Article
Walid Ibn Essayed and Ossama Al-Mefty
Operative Neurosurgery, Volume 21, Issue 5, November 2021, Page E435, https://doi.org/10.1093/ons/opab278
Published: 31 July 2021
... tumors that can be sporadic or multiple, as part of Von Hippel-Lindau disease. They develop at any level of the central nervous system, with a predilection for the dorsal medulla among brainstem locations. Radical resection of the solid portion of the tumor is the best treatment option. 1 , 2...
Journal Article
Reinier Alvarez and others
Neurosurgery, Volume 88, Issue 5, May 2021, Pages 1012–1020, https://doi.org/10.1093/neuros/nyaa565
Published: 13 January 2021
...Reinier Alvarez; Panagiotis Mastorakos; Elizabeth Hogan; Gretchen Scott; Russell R Lonser; Henry E Wiley; Emily Y Chew; Prashant Chittiboina Optic nerve hemangioblastoma von Hippel-Lindau Retrobulbar hemangioblastoma ABBREVIATIONS CNS central nervous system HGB hemangioblastomas IM...
Journal Article
Clement Chung
American Journal of Health-System Pharmacy, Volume 77, Issue 24, 15 December 2020, Pages 2064–2073, https://doi.org/10.1093/ajhp/zxaa308
Published: 05 October 2020
... suppressor genes (eg, the gene encoding von Hippel-Lindau [VHL] tumor suppressor protein) can activate tumorigenesis even with normal levels of oxygen, providing support for the notion that the HIF-VHL-VEGF axis is amenable to targeted therapies for the treatment of RCC. This article highlights the current...
Journal Article
Gustavo F C Fagundes and others
Journal of the Endocrine Society, Volume 3, Issue 9, September 2019, Pages 1682–1692, https://doi.org/10.1210/js.2019-00225
Published: 02 July 2019
... under the terms of the Creative Commons Attribution Non-Commercial, No-Derivatives License (CC BY-NC-ND; https://creativecommons.org/licenses/by-nc-nd/4.0/ ). Abstract Context Von Hippel-Lindau (VHL) disease is an autosomal dominant syndrome caused by germline mutations in the VHL gene...
Journal Article
Abhilasha Garg and others
Postgraduate Medical Journal, Volume 95, Issue 1122, April 2019, Page 223, https://doi.org/10.1136/postgradmedj-2018-136033
Published: 30 January 2019
..., Standard Journals Publication Model ( https://dbpia.nl.go.kr/pages/standard-publication-reuse-rights ) von hippel -lindau disease dysphagia hemangioblastoma pheochromocytoma syrinx A 25-year-old man presented with 2-week history of progressively worsening dysphagia to solids and liquids...
Journal Article
Simone E Dekker and others
Operative Neurosurgery, Volume 16, Issue 3, March 2019, Page 395, https://doi.org/10.1093/ons/opy178
Published: 13 July 2018
... Journals Publication Model ( https://dbpia.nl.go.kr/journals/pages/open_access/funder_policies/chorus/standard_publication_model ) Abstract This 3-dimensional operative video illustrates resection of a thoracic hemangioblastoma in a 30-year-old female with a history of Von Hippel-Lindau disease...
Journal Article
Mirza Pojskić and Kenan I Arnautović
Operative Neurosurgery, Volume 15, Issue 5, November 2018, Pages E64–E65, https://doi.org/10.1093/ons/opy074
Published: 06 April 2018
... is properly cited. For commercial re-use, please contact [email protected] Abstract This video demonstrates the microsurgical resection of brainstem hemangioblastoma. The patient is a 32-yr-old woman with Von Hippel Lindau syndrome who presented with quadriparesis and inability to swallow...