NCT02478892

Preliminary Evaluation of Screening for Pancreatic Cancer in Patients With Inherited Genetic Risk

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 200 (estimated)
• Sponsor: Abramson Cancer Center at Penn Medicine · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

The study is a prospective, observational study evaluating the utility of endoscopic ultrasound or MRI for the identification of preneoplastic and neoplastic pancreatic lesions in patients at high risk for pancreatic cancer, specifically those with BRCA1/2, ATM, or PALB2 mutations.

Detailed description

Endoscopic Ultrasound (EUS) has emerged as a critical component in the imaging, staging, and diagnosis of pancreatic cancer. Not only can EUS delineate a mass utilizing sonography through the wall of the stomach or duodenum, but it also can obtain diagnostic fine needle aspiration of suspicious lesions. Especially in patients with incomplete visualization of a mass on cross-sectional imaging, EUS can provide valuable anatomic information prior to surgical exploration. While several studies have demonstrated that EUS has high sensitivity and specificity in diagnosing pancreatic masses, head-to-head comparisons with established modalities like CT have been often methodologically flawed. In a meta-analysis, it was found that of 4 studies that assessed resectability, 2 showed no difference and 1 favored each modality. As such, estimates of accuracy for assessing preoperative resectability have also ranged in several studies from 63-93%. As such it has been recognized as an accepted modality for the evaluation of potential pancreatic malignancy. While pancreatic ductal adenocarincoma (PDAC) screening in the general population is not feasible given the low incidence of PDAC, screening in high risk cohorts may allow for early detection of resectable, and potentially curable tumors. Clinical outcome of patients with smaller, non-metastasized tumors have a significantly improved 5-year survival. Generally the current recommendation is that patients who are first degree relatives of patients with PDAC from a familial PDAC kindred with at least 2 directly related relatives, patients with Peutz-Jeghers syndrome, those with a CDKN2A pathogenic germline variant, and those with BRCA1/BRCA2/ATM/PALB2/Lynch pathogenic germline variants with a first or second degree relative with pancreatic cancer would qualify for pancreatic cancer screening. However, there is continued debate about whether family history should be used to determine who is eligible for pancreatic cancer screening. In this study we will be following individuals at the University of Pennsylvania who have a BRCA1, BRCA2, ATM, or PALB2 pathogenic germline variant and who are getting pancreatic cancer screening, regardless of whether or not they have a family history of PDAC. Ultimately, in high-risk individuals, such as BRCA1/2, ATM, and PALB2 carriers, the successful identification of early neoplastic/preneoplastic lesions of the pancreas would allow for timely intervention and likely improved survival in this cohort.

Conditions

• Pancreatic Cancer

Interventions

Type	Name	Description
OTHER	Collection of data from endoscopic ultrasound or MRI/MRCP of the abdomen	Participants in this study should be undergoing pancreatic cancer screening with endoscopic ultrasound or MRI as part of their standard care. These should typically be done at least every 12 months, and the imaging tests will be ordered as routine clinical tests and will be billed to the participant's insurance. This study does not cover the costs of these screening tests, however the study will track the results of these screening tests.
OTHER	Blood sample collection for research	Up to 40mL of blood may be collected for analysis at each screening examination.

Timeline

• Start date: 2015-05-01
• Primary completion: 2028-05-01
• Completion: 2030-05-01
• First posted: 2015-06-23
• Last updated: 2026-02-05

Locations

1 site across 1 country: United States