Neoplasms

Digestive System Diseases

Gland and Hormone Related Diseases

All Conditions

Rare Diseases

Pancreatic Neoplasms

Neoplasms, Cystic, Mucinous, and Serous

Gastrointestinal Neoplasms

Digestive System Neoplasms

Endocrine Gland Neoplasms

Gastrointestinal Diseases

Pancreatic Diseases

Endocrine System Diseases

Neoplasms, Glandular and Epithelial

Neoplasms by Histologic Type

Pancreatic Cancer

Wendy K Chung, MD

This is a retrospective observational study to determine the proportion of patients with a family history of pancreatic cancer and other malignancies among patients who have intraductal papillary mucinous neoplasm (IPMN).

The investigators will be reviewing the demographic, clinical, radiologic, pathologic, and follow-up information from the Pancres Center database. The investigators will also conduct a chart review to collect information recorded by clinicians on each subject's family history of malignancy and personal history of malignancy. Results of this database and chart review will be incorporated into a datasheet in which all patient identifiers have been removed.

The primary outcome will be the percentage of IPMN patients with at least one first-degree relative with pancreatic cancer or IPMN, or at least two first or second degree relatives with pancreatic cancer, IPMN, or malignancies related to pancreatic cancer syndromes, including colorectal, gastric, breast, ovarian, and melanoma neoplasms. Secondary outcomes will be the relative risk of IPMN subtypes of higher malignant potential (main duct or mixed type location), more advanced histology (carcinoma in situ or invasive carcinoma), and recurrence following surgical resection amongst subjects with a family history.

Intraductal papillary mucinous neoplasm (IPMN) is a cyst-like cancer of the pancreas that is increasingly being identified in medical practice, including during the screening of individuals at high risk of pancreatic cancer. It has been established that 10 to 20% of pancreatic cancers are familial. In comparison, there has been little research into the importance of genetic risk in IPMN incidence. The investigators will perform a retrospective chart review of patients with IPMN who were evaluated for surgical intervention at our tertiary referral center. The investigators are interested in determining the proportion of IPMN patients with a family history of pancreatic and other cancers. In addition, the investigators will assess if familial cancer risk is associated with increased risk for malignant IPMN and recurrence, relative to those patients without an inherited predisposition.

Family and Personal History of Malignancy in Intraductal Papillary Mucinous Neoplasm (IPMN)

Family and Personal History of Pancreatic and Other Malignancies in Patients With Intraductal Papillary Mucinous Neoplasms

Extent of Family History: The primary outcome will be the percentage of IPMN patients with at least one first-degree relative with pancreatic cancer or IPMN, or at least two first or second degree relatives with pancreatic cancer, IPMN, or malignancies related to pancreatic cancer syndromes, including colorectal, gastric, breast, ovarian, and melanoma neoplasms.

Characteristics of IPMN patients with Family History: Secondary outcomes will be the relative risk of IPMN subtypes of higher malignant potential (main duct or mixed type location), more advanced histology (carcinoma in situ or invasive carcinoma), and recurrence following surgical resection amongst subjects with a family history.

Columbia University

Symptoms and General Pathology

Syndrome

Familial Pancreatic Cancer

Gastrointestinal Agents

All Drugs and Chemicals

Pancrelipase

Pancreatin

Individual who has not had pancreatic cancer/IPMN; surgical resection for lesion of pancreas; history of colorectal, gastric cancer, esophageal, or head-and-neck cancer; administration of chemotherapy less than 1 week prior to enrollment; or an endoscopic procedure conducted less than 1 week prior to enrollment.

Patients diagnosed with Pancreatic Cancer/Intraductal Papillary Mucinous Neoplasm who are scheduled for surgical resection.

The purpose of this study is to determine if pancreatic cancer/pre-cancer can be detected in early stages through the molecular analysis of stool samples. Investigators hypothesize that analysis of stool samples using digital melt curve (DMC) analysis, can be used as a sensitive and specific method to detect the common genetic abnormalities present in pancreatic cancers and pre-cancerous lesions of the pancreas.

Pancreatic ductal adenocarcinoma (PDC) remains the fourth leading cause of cancer-related death in the United States. This is largely due to the fact that most patients present with advanced, unresectable disease, highlighting the critical need for a screening test for this disease. Stool testing is an approach that has not been explored for use in PDC screening. With the advent of stool-based DNA tests, it may be possible to target genetic abnormalities that have been recently characterized in PDC tumorigenesis.

Aim: The aim of this study is to determine if deoxyribonucleic acid (DNA) alterations present in pancreatic cancer and precancerous intrapapillary mucinous neoplasms (IPMN) can be reliably recovered in matched stool.

Methods: This is a case-control prospective study to determine the utility of a stool-based digital melt curve (DMC) assay in PDC screening. A total of 30 patients (18 with pancreatic cancer, 12 with IPMN) who will be undergoing pancreatic resection will be enrolled. Pancreatic neoplastic tissue will be isolated from their surgical specimens and the genes most commonly mutated in PDC will be sequenced from extracted DNA. In addition, hypermethylation at common promoter sites will be assessed by methylation-specific PCR. The genetic and epigenetic alterations isolated in pancreatic tissue will be utilized as the targets for stool DMC assay. Blinded technicians will process stool specimens from control patients as well as a matched control. The primary outcomes of this study will be the sensitivity and specificity of the stool DMC assay in detecting genetic mutations present in tumor or IPMN lesions.

* Tissue Collection: Fresh frozen resected tumor and IPMN tissue will be obtained whenever possible. All resected specimens, cancer and IPMN, will have histologic review to confirm the diagnosis. Ten slices of 10 microns each from each specimen will be prepared and sent to Mayo Clinic on dry ice.
* Stool Collection: Prior to any surgery, stool will be collected from both study and control patients. Collection containers and mailing materials will be provided to subjects at time of their recruitment. Stool specimens will be mailed directly to Mayo Clinic within 48 hours of collection. Stool will be stored at 80 °C until assayed.
* Stool DNA extraction: After stool is homogenized, crude stool DNA will be extracted and purified.
* Digital melt curve mutation analysis: Target gene copies in captured stool DNA and tissue DNA will be quantified with real-time PCR. To target the mutations detected in tumor specimens, we will utilize PCR primers that scan for specific gene abnormalities.

Stool Testing for Pancreatic Cancer

Detection of Pancreatic Cancer and Pre-cancer by Stool DNA Testing: A Feasibility Study

The positive mutation rates in tumor or IPMN lesions and in matched controls will be assessed.

Whether or not the genetic abnormalities that are detected in resected tissue can also be detected in stool specimens will be studied. If the hypothesis proves to be true, a new, non-invasive technique used in the detection of pre-cancerous lesions of the pancreas and pancreatic cancer will thereby be determined.

Study title	NCT ID	Conditions	Eligibility	Organization
Family and Personal History of Malignancy in Intraductal Papillary Mucinous Neoplasm (IPMN)	NCT01104077	Pancreatic Canc... Neoplasm	18 Years - 85 Years	Columbia University
Stool Testing for Pancreatic Cancer	NCT01104129	Pancreatic Canc...	18 Years - 85 Years	Columbia University
Stool Testing for Pancreatic Cancer	NCT01104129	Pancreatic Canc...	18 Years - 85 Years	Columbia University

Spots Global Cancer Trial Database for intraductal papillary mucinous neoplasm (ipmn)