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Von Hippel-Lindau (VHL) disease is classified into two main types based on the presence or absence of pheochromocytoma (pheo). VHL type 1 is characterized by the absence of pheo, while VHL type 2 encompasses individuals with pheo and is further divided into three subcategories: type 2A, type 2B, and type 2C. [ 19 ]
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 ]
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 ...
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.
Von Hippel–Lindau disease is a dominantly inherited cancer syndrome that significantly increases the risk of various tumors. This includes benign hemangioblastomas and malignant pheochromocytomas , renal cell carcinomas , pancreatic endocrine tumors , and endolymphatic sac tumors .
Locations of the main types of cysts and tumors in Von Hippel–Lindau disease. [55] Von Hippel-Lindau (VHL) disease is an autosomal dominant condition caused by mutations of the VHL gene. [56] Approximately one-in-five cases are de novo rather than familial and it has nearly complete penetrance. [57] VHL occurs in an estimated 1 in 36,000 ...