Natural History of Imaging Pancreatic Lesions in Patients with Von Hippel-Lindau Syndrome

PRIMARY OBJECTIVES:

I. To identify patients with von Hippel-Lindau (VHL) having pancreatic lesions defined by simple cysts, microcystic adenomas, neuroendocrine tumors and other solid lesions of the pancreas.

II. To follow patients with VHL and pancreatic manifestations by serial examination with non-invasive imaging studies consisting of computed tomography (CT) scan, magnetic resonance imaging (MRI) scan, positron emission tomography (PET)-CT scan, and as clinically indicated, abdominal ultrasound.

III. To determine if fludeoxyglucose F 18 (FDG) and fluorine F 18 fluorodopa (FDOPA) PET scans can detect early tumor metastasis, and predict which patients will have tumor progression and require an operation based on uptake status. (Note: this objective has been met for FDOPA PET imaging.)

IV. For patients with solid lesions of the pancreas, to determine the rate of growth and to correlate the growth rate with clinical measures of disease progression such as symptoms.

V. To validate non-invasive imaging methods for differentiating benign solid lesions, such as microcystic adenomas, from lesions with malignant potential, namely pancreatic neuroendocrine tumors.

VI. To characterize the time from initial presentation with pancreatic tumors to the time that surgery is recommended.

SECONDARY OBJECTIVES:

I. To obtain blood samples from patients to determine VHL mutation status and subtype the mutations for potential correlation with disease severity.

II. When possible, to obtain tissue from pancreatic lesions for genetic analysis including comparative genomic hybridization (CGH), tissue proteomics, and complementary (c) deoxyribonucleic acid (DNA) microarray analysis.

OUTLINE:

Patients undergo non-invasive imaging comprising CT, MRI, ultrasound, FDG-PET, and PET-CT scan at baseline.

After completion of study, patients who are found to have only cystic disease of the pancreas or who have had surgery and who no longer have a primitive neuroectodermal tumors (PNETs) may be followed up yearly for 2 years and then every 2 years thereafter.