Von Hippel-Lindau Syndrome, Pathology of the Pancreas

Definition

von Hippel-Lindau (VHL) disease is an autosomal dominant syndrome with multi-organ involvement, caused by genetic aberrations of the tumor suppressor gene VHL. Most cases are familial; however, a percentage up to 20% of patient without family history develops the disease due to de novo mutations.

Clinical Features

• Incidence

  VHL affects approximately 1 in 36,000 live births.

• Age and Sex

  Males and females are equally affected, and early manifestations of the syndrome occur in the second decade of life: about a half of patients is symptomatic at the time of diagnosis; the remainders are identified by imaging (incidental finding). The penetrance of the disease is over 90% by the age of 65.

• Site

  There is a wide spectrum of symptoms, depending on the site and extension of the disease. The most common manifestations include (1) in the central nervous system, retinal, brain, and spinal cord hemangioblastomas; (2) in the kidneys, cysts and clear cell renal cell carcinoma; (3) in the...