Surgical excision of cerebellar haemangioblastomas, once they become Symptomatic, is the standard treatment in patients with von Hippel-Lindau disease. This case report describes a von Hippel-Lindau disease patient with a rare recurrent symptomatic dural based cystic haemangioblastoma.
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Mass Spectrometry Analysis of Chemically and Collisionally Dissociated Molecular Glue- and PROTAC-Mediated Protein Complexes Informs on Disassembly Pathways.
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Technical University of Darmstadt, Clemens-Schöpf Institute of Organic Chemistry and Biochemistry, Department of Chemistry, Peter-Grünberg-Straße 4, 64287 Darmstadt, Germany.
Molecular glues (MGs) and proteolysis-targeting chimeras (PROTACs) are used to modulate protein-protein interactions (PPIs), via induced proximity between compounds that have little or no affinity for each other naturally. They promote either reversible inhibition or selective degradation of a target protein, including ones deemed undruggable by traditional therapeutics. Though native MS (nMS) is capable of analyzing multiprotein complexes, the behavior of these artificially induced compounds in the gas phase is still not fully understood, and the number of publications over the past few years is still rather limited.
View Article and Find Full Text PDFInvestigating the association of VHL gene variants with disease risk and clinicopathological outcomes in ccRCC patients from West Bengal, India.
Urol Oncol
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Department of Zoology, University of Calcutta, Kolkata, West Bengal, India.
Background: Clear cell renal cell carcinoma (ccRCC) is a prevalent and aggressive malignancy, with the von Hippel-Lindau (VHL) gene playing a critical role in its pathogenesis. However, the association between VHL gene variants and sporadic ccRCC risk remains unexplored in the Indian population. This study aimed to investigate the somatic and germline variants of the VHL gene in sporadic ccRCC patients from West Bengal, India, and their association with disease risk and clinicopathological parameters.
View Article and Find Full Text PDFRetinal capillary hemangioma in a pthisical globe: Late sequelae in a case of Von Hippel-Lindau (VHL) disease presenting with endophthalmitis.
Int J Surg Case Rep
January 2025
Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia; King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia; Department of Pathology and Laboratory Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia. Electronic address:
Introduction: Retinal capillary hemangioma (RCH) is a benign vascular hamartoma that can occur sporadically or as a manifestation of Von Hippel-Lindau (VHL) disease. If left untreated, it results in adverse ocular complications depending on its location and eventual visual loss.
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Immunohistochemical Expression of PAX8 in Central Nervous System Hemangioblastomas: A Potential Diagnostic Pitfall for Neuropathologists.
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January 2025
Department of Medical and Surgical Sciences and Advanced Technologies "G.F. Ingrassia," Anatomic Pathology, University of Catania.
The histologic differential diagnosis between intracranial hemangioblastoma (HB) and metastatic clear cell renal cell carcinoma may be challenging, especially considering that both tumors exhibit clear cell morphology and can be associated with vHL mutation and/or Von Hippel-Lindau syndrome. As the execution of immunohistochemical analyses is often mandatory, the expression of PAX8 has been traditionally considered a reliable marker of metastatic clear cell renal cell carcinoma, being consistently negative in intracranial HB. However, as in recent years, some cases of PAX8-positive HBs have been reported in the literature; we studied the expression of this antibody on a series of 23 intracranial HB, showing that about 40% of these tumors may express PAX8 and that this immunoreactivity is often focal and weak.
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Department of Orthopaedics, the second Affiliated Hospital of Wannan Medical College, Wuhu 241000, China. Electronic address:
Background: Renal hemangioblastoma (HB) is a rare extra-central nervous system (CNS) tumor, typically not linked to Von Hippel-Lindau (VHL) Syndrome, and its underlying genetic drivers and molecular mechanisms remain elusive. The objective of this study is to investigate the clinicopathological features and molecular genetic changes of primary renal hemangioblastomas.
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