Biomarker Analysis in Improving Screening in Patients with or at High Risk of Developing Pancreatic Cancer

Inclusion Criteria

• High risk subjects: Asymptomatic individuals meeting recommended criteria for pancreatic screening to detect early pancreatic neoplasia based on consensus guidelines including those who have had no prior screening (“screening naive group”) and those who have had screening in prior studies either at Hopkins (CAPS 1-4) or at other centers and are under surveillance (“surveillance group")
• INCLUSION CRITERIA FOR SCREENING NAIVE INDIVIDUALS:
• High risk group 1 (familial Peutz-Jeghers syndrome): * At least 30 years old, and * At least 2 of 3 criteria diagnostic of Peutz-Jeghers syndrome (characteristic intestinal hamartomatous polyps, mucocutaneous melanin deposition, or family history of Peutz-Jeghers syndrome), or, * Known LKB1/STK11 gene mutation carrier
• High risk group 2 (familial pancreatic cancer relatives): * >= 55 years old or 10 years younger than the age of youngest relative with pancreatic cancer, and * Come from a family with 2 or more members with a history of pancreatic cancer (2 of which have a first-degree relationship consistent with familial pancreatic cancer), and * Have a first-degree relationship with at least one of the relatives with pancreatic cancer * If there are 2 or more affected blood relatives, at least 1 must be a first-degree relative of the individual being screened
• High risk group 3 (Group 1 germline mutation carriers with an associated with an estimated lifetime risk of pancreatic cancer of ~10% or higher): * > 40 years old and the patient is a carrier of familial atypical multiple mole melanoma (FAMMM) (p16/cyclin dependent kinase 2a [CDKN2A]) mutation regardless of family pancreas cancer history * > 50 years old or 10 years younger than the age of the youngest relative with pancreatic cancer, and the patient is a carrier of a known BRCA2, ATM, PALB2 mutation, and there is >= 1 pancreatic cancer in the family, one of whom is a first- or second-degree relative of the subject to be screened
• High risk group 4 (Group 2 germline mutation carriers with an associated with an estimated lifetime risk of pancreatic cancer of ~5%): * >= 50 years old or 10 years younger than the age of the youngest relative with pancreatic cancer, and * The patient is a carrier of a known, BRCA1, or HNPCC (hereditary non-polyposis colorectal cancer or Lynch syndrome, human mutL homolog 1 [hMLH1], human mutS homolog 2 [hMSH2], postmeiotic segregation increased 1 [PMS1], human mutS homolog 6 [hMSH6], epithelial cell adhesion molecule [EpCAM]) gene mutation, and there is >= 1 pancreatic cancer in the family, one of whom is a first- or second-degree relative of the subject to be screened
• High risk group 5 (hereditary pancreatitis) with known gene mutations that predispose to chronic pancreatitis, such as protease, serine, 1 (trypsin 1) (PRSS1), protease, serine, 2 (trypsin 2) (PRSS2), chymotrypsin C (CTRC) and age 50 years or older (these patients have an estimated lifetime risk for pancreatic cancer of 40%) or twenty-years since their first attack of pancreatitis, whichever age is younger
• Additional requirements for eligible screening-naive high risk patients: * Persons with known genetic mutation should have proof of mutation status; those who had research-related genetic testing must have confirmation by a clinical Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory * A good faith attempt should be made to confirm pancreatic cancers in the family members via registration in a pancreatic cancer registry, or examination of death certificate(s) and/or medical records of the affected relative(s)
• Adult patients with pancreatic lesions (cysts, masses, dilated ducts) who do NOT meet the family history criteria for screening, can be enrolled into the study if they are scheduled for clinical pancreatic evaluation; similarly, subjects who have symptoms suspected of being likely related to pancreatic neoplasia would not be eligible for screening but could be enrolled into the study as disease controls and provide specimens for marker analysis
• Patients may be excluded from pancreatic screening on clinical grounds such as medical comorbidities or coagulopathy that contraindicate endoscopy, or prior surgery that prevent optimal EUS such as partial or complete gastrectomy with Bilroth or Roux-en-Y anastomosis or a stricture or obstruction in the upper gastrointestinal (GI) tract that does not allow passage of the echoendoscope, poor performance status inability to provide informed consent or pregnancy
• Disease controls: * In addition those suspected to have or known to have a pancreatic lesion or abnormality undergoing imaging with EUS as part of their standard medical care, including those with:
• Control 1 (negative controls): * Are undergoing EUS and/or ERCP for non-pancreatic indications as part of their standard medical care, and * Have no clinical or radiologic suspicion of pancreatic disease (chronic pancreatitis or pancreatic cancer)
• Control 2 (chronic pancreatitis) * Are undergoing EUS and/or ERCP for evaluation and/or treatment of suspected or proven chronic pancreatitis as part of their standard medical care, and, * Have no clinical or radiologic suspicion of pancreatic cancer
• Control 3 (pancreatic cancer) * Are undergoing EUS and/or ERCP for evaluation and/or treatment of suspected or proven pancreatic ductal adenocarcinoma (based on clinical and radiologic evidence)
• Control 4 (pancreatic cysts suspected to have malignant potential such as intraductal papillary mucinous neoplasms or IPMNs) * Are undergoing EUS and/or ERCP for evaluation and/or treatment of suspected or proven pancreatic cancer precursor, intraductal papillary mucinous neoplasm (based on clinical presentation and radiologic or prior EUS or radiologic evidence of a dilated main pancreatic duct and/or pancreatic cystic lesion communicating with the pancreatic ductal system)
• Patients who are undergoing pancreatic evaluation as part of their standard medical care can be enrolled and provide samples for research irrespective of their family history of pancreatic cancer or their gene mutation status (even if they do not meet recommended criteria for pancreatic screening)