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Von Hippel–Lindau disease is inherited in an autosomal dominant pattern. Every cell in the body has two copies of every gene (bar those found in the sex chromosomes, X and Y). In VHL disease, one copy of the VHL gene has a mutation and produces a faulty VHL protein (pVHL).
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.
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.
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]
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 ...
PanNETs have been associated with multiple endocrine neoplasia type 1 (MEN1) and von Hippel Lindau syndromes. [2] [3] [4] Chronic pancreatitis appears to almost triple risk, and as with diabetes, new-onset pancreatitis may be a symptom of a tumor. [3] The risk of pancreatic cancer in individuals with familial pancreatitis is particularly high ...
von Hippel-Lindau (VHL) disease [32] neurofibromatosis type 1 [33] tuberous sclerosis [34] [35] Carney complex [36] [37] Given these associations, recommendations in NET include family history evaluation, evaluation for second tumors, and in selected circumstances testing for germline mutations such as for MEN1. [1]
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 .