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The disease is caused by mutations of the Von Hippel–Lindau tumor suppressor (VHL) gene on the short arm of chromosome 3 (3p25-26). There are over 1500 germline mutations and somatic mutations found in VHL disease. [12] [13] Von Hippel–Lindau disease is inherited in an autosomal dominant pattern.
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. [5]
Pancreatic serous cystadenoma is a benign tumour of the pancreas. [2] It is usually solitary and found in the body or tail of the pancreas, and may be associated with von Hippel–Lindau syndrome . [ 2 ]
Belzutifan is indicated for treatment of adults with von Hippel-Lindau (VHL) disease who require therapy for associated renal cell carcinoma (RCC), central nervous system (CNS) hemangioblastomas, or pancreatic neuroendocrine tumors (pNET), not requiring immediate surgery. [10]
Von Hippel–Lindau disease is a rare, autosomal dominant genetic condition that predisposes individuals to benign and malignant tumors. The most common tumors in Von Hippel–Lindau disease are central nervous system and retinal hemangioblastomas, clear cell renal carcinomas, pheochromocytomas, pancreatic neuroendocrine tumours, pancreatic ...
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]
DNA analysis of the cystic fluid may aid in the diagnosis of pancreatic cysts, but yields are variable, between 25-50%. [1] VHL tumor suppressor gene mutations (associated with Von Hippel-Lindau disease) are associated with simple cysts, serous cystadenomas and less commonly pancreatic neuroendocrine tumors. [5]
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.