Pancreatic Manifestations of VHL

Von Hippel-Lindau syndrome (VHL) is an inherited autosomal dominant condition characterized by tumors of the kidney, central nervous system, and adrenal glands among others. Within VHL, tumors in the pancreas may occur, and pancreas lesions are seen in VHL types 1 and 2A (Nordstrom-O'Brien et al., Hum Mutat 31(5):521–37, 2010). Pancreatic neuroendocrine tumors (PNETs) are found in 8–17% of patients while pancreatic cystic neoplasms, either cysts or serous cystadenoma, occur in anywhere from 17% to 56% (Lonser et al., Lancet 361(9374):2059–67, 2003). Both tend to occur in patients in their mid to late 30s. Distinguishing between tumor type informs plans for follow-up, expected outcomes, as well as future management. Because they occur within the setting of a genetic mutation and because recurrence or multiple tumors are expected, recommendations for treatment deviate from what would be expected in a solitary tumor. While pancreas tumors are not the primary cause of mortality in VHL, they do require surveillance and, in some cases, surgical management.