2022年5月18日 · Features of von Hippel-Lindau disease can be remembered by the mnemonic: HIPPEL Mnemonic: H: hemangioblastoma of CNS I: increased risk of renal cell cancer P: pheochromocytoma P: pancreatic lesions (cyst, cystadenoma, cystadenocarcinoma, ne...

2000年5月17日 · Von Hippel-Lindau syndrome (VHL) is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma and paraganglioma; pancreatic cysts and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cystadenomas. Retinal hemangioblastomas may be the initial manifestation of VHL and can cause ...

Von Hippel-Lindau (vHL) disease is characterized by the development of numerous benign and malignant tumors in different organs (at least 40 types 1) due to mutations in the VHL tumor suppressor gene on chromosome 3. Epidemiology The disease is...

The VHL protein promotes the destruction of hypoxia-inducible factor 1 alpha (HIF-1-alpha). In the setting of a loss of VHL protein, there is increased levels of vascular endothelial growth factor (VEGF).

2023年1月30日 · Von Hippel-Lindau (VHL) syndrome is a hereditary autosomal dominant disease affecting several organ systems. The growth of cysts or tumors characterizes the disease. Tumors can either be benign or malignant. The most characteristic type of tumor in VHL is hemangioblastoma, a benign tumor made of newly formed blood vessels. Hemangioblastomas develop in the central nervous system (CNS) and ...

2025年3月7日 · The von Hippel-Lindau disease, also von Hippel-Lindau syndrome is characterized by (mnemonic: HIPPEL): [1] Hemangioblastomas - brain and hemangioblastoma of the kidney. Increased renal cancer (clear cell renal cell carcinoma). Pheochromocytoma, pancreatic neuroendocrine tumours [2] and papillary cystadenoma of the epididymis. [3] [4] Port-wine stains, skin lesion - looks like spilled wine ...

Von Hippel–Lindau disease (VHL), also known as Von Hippel–Lindau syndrome, is a rare genetic disorder with multisystem involvement. [3] It is characterized by visceral cysts and benign tumors with potential for subsequent malignant transformation. It is a type of phakomatosis that results from a mutation in the Von Hippel–Lindau tumor suppressor gene …

2018年3月30日 · Von Hippel–Lindau syndrome (VHL) is an autosomal-dominant hereditary tumor disease that arises owing to germline mutations in the VHL gene, located on the short arm of chromosome 3. Patients with VHL may develop multiple benign and malignant tumors involving various organ systems, including retinal hemangioblastomas (HBs), central nervous system (CNS) HBs, endolymphatic sac tumors ...

2021年12月26日 · A 33-year-old man presents to the emergency department after noticing blood in his urine. Medical history is notable for a recently diagnosed left eye retinal hemangioblastoma, for which ophthalmology is following. Family history is notable for his father having some sort of brain and pancreatic cancer. A CT abdomen demonstrates a left-sided renal mass with areas of necrosis and calcifications.

The VHL gene is a tumor suppressor gene located on chromosome 3. This usually controls cell growth and cell death. Both copies of a tumor suppressor gene must be changed, or mutated, before a person will develop cancer. In about 4 in 5 VHL cases, the first mutation is inherited from either the mother or the father.