Familial pancreatic cancer and hereditary syndromes: screening strategy for high-risk individuals.
ABSTRACT Globally, and almost evenly across nations, a familial disposition can be found in 4-10% of patients with pancreatic cancer (PC). A family history of PC is a risk for this disease and the risk level changes in correlation with the number of affected relatives. Several hereditary syndromes with potential germline mutation also have a high risk for PC; however, little is yet known regarding the genes responsible for familial pancreatic cancer (FPC). Characteristics of FPC cases are similar to those of other familial tumors, including younger onset than in sporadic cases and an ethnic difference (Ashkenazi Jewish > other Caucasian). Other risks resemble those of sporadic cases and include smoking and diabetes mellitus. People with several genetic syndromes, including Peutz-Jeghers syndrome, hereditary pancreatitis, breast-ovarian cancer syndrome, hereditary nonpolyposis colorectal cancer, and familial adenomatous polyposis also have an increased risk of PC. In many countries, but not yet in Japan, screening of these high-risk individuals is now ongoing for the detection of early PC under established familial pancreatic cancer registries. In addition to the ordinary risk factors, such as smoking, diabetes, pancreatitis, cysts, duct ectasia, and intraductal papillary mucinous neoplasm (IPMN), individuals with a family history of PC and hereditary syndromes are expected to be entered into the screening protocol.
Article: Development of pancreatic ductal adenocarcinoma associated with intraductal papillary mucinous neoplasia.[show abstract] [hide abstract]
ABSTRACT: We retrospectively investigated the incidence of pancreatic ductal adenocarcinoma among patients with intraductal papillary mucinous neoplasms of the pancreas. Based on imaging in 195 such patients, we chose surgery as initial treatment for 54, and periodic evaluation over 6 to 192 months (mean, 52) for 141. In 6 of the 141 patients observed for intraductal papillary mucinous neoplasm (4.2%), pancreatic ductal adenocarcinoma developed. Further, careful monitoring for cancer occurrence in the remnant pancreas proved essential in the surgical resection group; 2 of 26 patients (7.7%) subsequently developed pancreatic ductal adenocarcinoma in the remnant pancreas, at 41 months and 137 months after surgery. Serial observation of patients with intraductal papillary mucinous neoplasms by contrast-enhanced computed tomography or magnetic resonance cholangiopancreatography therefore is critical, whether or not surgical treatment initially was performed.ISRN gastroenterology. 01/2011; 2011:940378.