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The Von Hippel–Lindau tumor suppressor also known as pVHL is a protein that, in humans, is encoded by the VHL gene. Mutations of the VHL gene are associated with Von Hippel–Lindau disease, which is characterized by hemangioblastomas of the brain, spinal cord and retina. It is also associated with kidney and pancreatic lesions.
Original Von Hippel's description of disease. The German ophthalmologist Eugen von Hippel first described angiomas in the eye in 1904. [30] Arvid Lindau described the angiomas of the cerebellum and spine in 1927. [31] The term Von Hippel–Lindau disease was first used in 1936; however, its use became common only in the 1970s. [9]
It is usually solitary and found in the body or tail of the pancreas, and may be associated with von Hippel–Lindau syndrome. [2] In contrast to some of the other cyst-forming tumors of the pancreas (such as the intraductal papillary mucinous neoplasm and the pancreatic mucinous cystadenoma), serous cystic neoplasms are almost always entirely ...
Pancreatic neuroendocrine tumors may arise in the context of multiple endocrine neoplasia type 1, Von Hippel–Lindau disease, neurofibromatosis type 1 (NF-1) or tuberose sclerosis (TSC) [31] [32] Analysis of somatic DNA mutations in well-differentiated pancreatic neuroendocrine tumors identified four important findings: [33] [7]
Although not officially categorized as multiple endocrine neoplasia syndromes, Von Hippel–Lindau disease [2] and Carney complex [3] are two other autosomal dominant endocrine tumor syndromes with features that overlap the clinical features of the MEN syndromes.
[30] [36] The hydroxylated proline residue of HIF1A is then recognized and buried in the hydrophobic core of von Hippel-Lindau tumor suppressor protein (VHL), which itself is part of a ubiquitin ligase enzyme. [37] [38] Once the hydrolylated HIF1A is buried in the VHL protein, VHL will transport it to a proteasome to digest and destroy HIF1A ...
Hereditary bilateral, multifocal kidney tumors similar to those seen in BHD can occur with von Hippel–Lindau disease (clear cell renal cell carcinoma), hereditary papillary renal cancer (papillary renal cell carcinoma), and hereditary leiomyomatosis and renal cell cancer syndrome. They are differentiated with examination of the tumors' histology.
Belzutifan's capacity to reduce serum erythropoietin verified its clinical applicability for the treatment of malignancies linked to von Hippel-Lindau (VHL), such as renal cell carcinoma (RCC) with clear cell histology (ccRCC), pancreatic lesions, neuroendocrine tumors, and CNS hemangioblastomas or pancreatic neuroendocrine tumors (pNET), which ...