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.

Below is information about the prevalence, presentation, symptoms, and management of various VHL disease manifestation by organ sites. Central nervous system (CNS) hemangioblastomas (vascular tumors) are the most common brain and spinal cord tumors in patients with VHL disease, affecting up to 80% of patients.

2025年3月8日 · 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. The disease is rare with an estimated prevalence of 1:35,000-50,000.

Von Hippel-Lindau disease can be split into two subtypes, Type 1 and Type 2, depending on the presence of pheochromocytomas. Type 1 VHL has a low risk of pheochromocytomas, but both subtypes present with multiple organ tumors. Retinal hemangioblastoma usually presents bilaterally and around the optic disc.

Locations of the main types of cysts and tumors in Von Hippel–Lindau disease. [2] 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.

Von Hippel-Lindau (VHL) syndrome is a rare disorder caused by a mutation in a single gene called the VHL gene. If you have VHL syndrome, you are at greater risk of developing certain tumors. VHL syndrome affects one in 36,000 people. Because VHL syndrome is genetic, there is a chance that your relatives may have the mutation as well.

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.

von Hippel-Lindau types and tumors. There are two major categories of VHL: type 1 and type 2. People with type 1 disease rarely develop a tumor known as pheochromocytoma. People with type 2 VHL develop it 10-15% of the time. Tumors caused by VHL appear most often in the eyes, ears, lower part of the brain, spine, pancreas, adrenal glands and ...

2022年8月1日 · von Hippel Lindau disease (vHL) is caused by a hereditary predisposition to multiple neoplasms, especially hemangioblastomas in the retina and CNS, renal cell carcinomas (RCC), pheochromocytomas, neuroendocrine pancreatic …

2024年10月23日 · Von Hippel-Lindau disease (VHL) is an autosomal dominant disease that can predispose individuals to multiple neoplasms. Germline pathogenic variants in the VHL gene predispose individuals to specific types of benign tumors, malignant tumors, and …