The overall purpose of this research project is to establish a registry of patients with
pancreatic diseases. Patients included in the registry may include those with: pancreatic
cancer, precancerous lesions of the pancreas such as intraductal papillary mucinous
neoplasms (IPMNs) and cystic lesions, inflammatory lesions and inflammation of the
pancreas, and patients at high-risk of pancreatic cancer such as those with a family
history of pancreatic cancer or with a family history of a syndrome known to be
associated with pancreatic cancer. The data contained in this registry will be used to
conduct research related to the risk of pancreatic cancer and pancreatic diseases. As
this is a registry protocol, no specific hypotheses are to be tested.
Specific Aims:
Establish and maintain a registry of individuals and their family members who have
pancreatic diseases and may be at increased risk of developing pancreatic cancer
over normal population risk.
Collect data and review existing data on personal and family histories,
demographics, risk factors, and health behaviors.
Use the data in the registry to conduct studies related to disease risk, prevention,
and prognosis of pancreatic cancer and other pancreatic diseases.
Pancreatic cancer is the fourth leading cause of death from malignancy in the United
States. With near equivalent incidence and mortality, cure can only be achieved with
surgical resection of an early stage lesion. Premalignant disease stages, such as IPMN,
may be detected with noninvasive and minimally invasive techniques, providing an
opportunity for screening and surveillance of at-risk populations.
Knowledge of the etiology of pancreatic cancer is incomplete. Approximately 10% of
pancreatic ductal adenocarcinoma (PDAC) has a hereditary component, and screening this
population has the potential to have an impact on disease mortality. Certain patient
populations, such as those with hereditary pancreatitis, Peutz-Jeghers syndrome, familial
atypical multiple mole melanoma (FAMMM syndrome), Lynch syndrome, and the breast ovarian
cancer syndrome (BRCA1 and BRCA2 mutations) are at the highest risk of PDAC. BRCA2
mutations are the most commonly identified germline mutations in families with PDAC. Even
a family history of PDAC without the above described syndromes has been shown to increase
risk, suggesting a unique familial pancreatic cancer syndrome which may be related to the
partner and localizer of BRCA2 (PALB2) gene or other PDAC susceptibility genes.
Environmental risk factors, such as cigarette smoking, diabetes, obesity and dietary risk
factors have been implicated in the development of PDAC.
A sequential model of acquisition of somatic mutations via a Pancreatic Intraepithelial
Neoplasia (PanIN) has been proposed for the development of PDAC and subsequent
metastases. However, others have proposed that the metastatic process may be initiated
earlier in the disease process during the pre-malignant cyst or PanIN phase. This may in
part account for the fact that the overwhelming majority of patients diagnosed with PDAC
are diagnosed when the lesion is already metastatic.
Several groups have instituted PDAC screening for individuals at high-risk of PDAC. These
groups have demonstrated the feasibility of detection of PDAC and pre-malignant lesions
in certain high-risk individuals. Given the large gaps in knowledge, recruitment of
patients with preneoplastic pancreatic diseases to registries is essential in the
development of effective PDAC screening and prevention programs.
As an increasing number of patients undergo cross-sectional imaging with the abdomen with
cat scan (CT) and magnetic resonance imaging (MRI), an increasing number of patients are
found to have pancreatic disease and pancreatic cysts. While there is an increased risk
of pancreatic cancer with these lesions, the studies to date are small and retrospective.