OBJECTIVES:

• Identify pancreatic lesions (e.g., simple cysts, microcystic adenomas, neuroendocrine tumors, or other solid lesions of the pancreas) in patients with von Hippel-Lindau syndrome (VHL).
• Follow patients with VHL and pancreatic manifestations by serial examination with non-invasive imaging studies (e.g., CT scan, MRI, and/or abdominal ultrasound).
• Correlate rate of lesion growth with clinical measures of disease progression (e.g., symptoms) in patients with solid lesions of the pancreas.
• Determine VHL mutation status and subtype the mutations for potential correlation with disease severity in these patients.
• Obtain tissue from the pancreatic lesions of these patients for genetic analysis, including comparative genomic hybridization, tissue proteomics, and cDNA microarray analysis.
• Determine the time from initial presentation with pancreatic tumors to the time that surgery is recommended in these patients.

OUTLINE: Patients undergo non-invasive imaging studies (e.g., CT scan with contrast, MRI, and/or abdominal ultrasound). Blood and urine samples are collected for laboratory analysis. Blood samples are also drawn for genetic germ line mutational analysis.

All patients are offered genetic counseling.

Patients with cystic disease of the pancreas only (no solid lesions) are followed with non-invasive imaging studies at least every 2 years.

Patients with solid lesions of the pancreas that are suspicious for pancreatic neuroendocrine tumors (PNETs) and have not reached size criteria for surgery are followed annually with CT scans and MRI.

Patients with solid lesions of the pancreas that are suspicious for PNETs and have reached size criteria for surgery or are symptomatic for PNETs may undergo surgical management. Patients with cystic disease who develop symptoms attributable to the cysts may also undergo surgical management.

In patients who undergo surgical resection, tissue is removed for further genetic analysis, including comparative genomic hybridization, cDNA microarray analysis, and tissue proteomics.

PROJECTED ACCRUAL: A total of 300 patients will be accrued for this study within 5 years.