OBJECTIVES:

• Determine the feasibility of using endoscopic ultrasonography (EUS) to screen for early pancreatic neoplasia, in terms of participant's willingness to undergo screening and safety and efficacy of the procedure, in participants with familial Peutz-Jeghers syndrome and relatives of patients with familial pancreatic cancer.
• Determine the prevalence and stage of early cancers in asymptomatic individuals (relative to that of symptomatic cancers diagnosed in kindreds) and the potential diagnostic yield of a screening program for familial pancreatic cancer and Peutz-Jeghers syndrome.
• Determine the EUS abnormalities and the phenotype of pancreatic cancer in high-risk individuals.
• Compare the EUS abnormalities in these participants with those in age-, race-, and sex-matched controls with and without chronic pancreatitis and sporadic pancreatic cancer, to determine which are specific and potentially diagnostic of early pancreatic neoplasia.
• Estimate the relative risk for pancreatic neoplasia adjusted for confounding factors in these participants.
• Correlate EUS and histologic abnormalities in these participants.
• Compare EUS accuracy for diagnosis of pancreatic neoplasia with cytology/histology in these participants.

OUTLINE: This is a pilot study.

All participants (including the control groups) undergo a complete history, endoscopic ultrasonography (EUS), serum trypsinogen analysis, and secretin-stimulated pancreatic juice collection.

High-risk participants (groups 1 and 2) also undergo a physical examination, genetic counseling, dual-phase contrast spiral abdominal CT scan, and serum CA 19-9 analysis. If the baseline EUS is abnormal, participants undergo EUS-guided fine needle aspiration (FNA) and endoscopic retrograde cholangiopancreatography. Pancreatic aspirates are graded for dysplasia. Participants diagnosed with a mass, cancer, or severe dysphagia are referred for surgery. EUS is performed on the resected specimen and adjacent normal tissue to directly correlate EUS abnormalities with histology in vitro.

Participants with a normal screening EUS and normal CT scan repeat EUS, CT scan, and serum CA 19-9 and trypsinogen analysis in 1 year. Participants with an abnormal EUS who do not have surgery and have EUS-guided FNA that does not show severe dysplasia or cancer repeat EUS/FNA and CT scan within 3-6 months.

PROJECTED ACCRUAL: A total of 60 high-risk participants (15 with Peutz-Jeghers syndrome [group 1] and 40 with familial pancreatic cancer relatives [group 2]) and 160 control participants (100 normal controls, 30 chronic pancreatitis controls, and 30 sporadic pancreatic cancer controls) will be accrued for this study within 1 year.