Von Hippel-Lindau Syndrome

The most common tumors that can occur with Von Hippel-Lindau syndrome include:

• Central nervous system hemangioblastoma (hem-ANJ-ee-oh-GLEE-oh-blast-OH-mah): a benign (noncancerous) tumor in the brain or spinal cord
• Retinal angioma or hemangioblastoma: benign tumors in the eye
• Renal (kidney) cysts: benign, fluid-filled sacs in the kidney
• Clear cell renal cell carcinoma: a type of kidney cancer 
• Pheochromocytoma (FEE-oh-CROME-oh-sy-TOH-mah): a tumor that grows in the adrenal glands on top of the kidneys and is usually noncancerous. 
• Endolymphatic sac tumor (EN-doh-lim-FAT-ic): a rare, slow-growing tumor inside the ear
• Pancreas cysts: noncancerous, fluid-filled sacs in the pancreas 
• Neuroendocrine tumor: a cancer that grows in the pancreas
• Papillary cystadenoma (sist-add-en-OH-ma): a benign growth that can appear near the testicles in males or in the broad uterine ligament in females

Von Hippel-Lindau syndrome happens when there is a series of changes (mutations) on a gene. This gene, called the Von Hippel-Lindau (VHL) gene, suppresses tumor growth throughout the body. When the gene does not work properly, cysts and tumors can form.

Most children with VHL syndrome have inherited the condition from a parent with the gene mutation. But in about one in five cases, the mutation is not inherited: It happens on its own. 

Mosaicism (moh-ZAY-ih-sizm) may affect children with VHL syndrome. When a gene change occurs for the first time in a cell in a developing embryo and not in a parent’s sperm or egg, the embryo becomes a mixture of cells, some with the gene change and some without. People who have Von Hippel-Lindau syndrome with mosaicism may have fewer tumors and those tumors may appear later in life.