Pancreas Cancer, Peutz-Jeghers Syndrome (PJS), Gene Mutation, Germline Mutation Carrier, Lynch Syndrome
Conditions
Keywords
familial pancreas cancer, (Peutz-Jeghers Syndrome) PJS, Breast cancer (BRCA) 2, Partner and Locator of BRCA2 (PALB2), Familial Atypical Multiple Mole- Melanoma (FAMMM), p16, CDKN2A, Breast Cancer (BRCA)1, (hereditary non-polyposis colorectal cancer or Lynch syndrome) HNPCC, Lynch Syndrome, hereditary pancreatitis, Protease Serine (PRSS), Chymotrypsin C (CTRC), Ataxia Telangiectasia Mutated(ATM)
Brief summary
Johns Hopkins clinical research office quality assurance group will monitor and audit this study at Johns Hopkins. The Sub Investigator at each site will be responsible for internal monitoring at their site.
Detailed description
The Sub Investigator at each site will be responsible for internal monitoring at their site. The site sub Investigator and study team will report any serious adverse events to Principal Investigator and annually report adverse events.
Interventions
DRUGSecretin
inject Secretin to stimulate pancreatic digestive fluid, which is collected in duodenum near ampulla via endoscope suction port. This fluid will be assessed for biomarkers.
DIAGNOSTIC_TESTMRI
MRI abdomen with contrast (MRCP) will be clinically indicated for abnormal novel CA-19-9 lab results.
OTHERTumor marker gene test with CA19-9
A tumor marker gene test that will be used to stratify individuals into one of several circulating tumor marker reference ranges for CA19-9. The variants in the genes FUT3 and FUT2 affect the levels of CA19-9.
Sponsors
National Cancer Institute (NCI)
National Institutes of Health (NIH)
American Association for Cancer Research
Johns Hopkins University
Study design
Allocation
NON_RANDOMIZED
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Masking description
No masking of the diagnostic test results
Intervention model description
Evaluation of the effect of diagnostic tests for pancreatic cancer
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Hereditary Pancreatitis or * Peutz-Jeghers Syndrome or * Strong family history of pancreas cancer on one side of the family tree or * Confirmed germline mutation carrier (BRCA2, FAMMM (CDKN2A/p16), PALB2, BRCA1, ATM, HNPCC, Lynch Syndrome (hMLH1, hMSH2, PMS2, hMSH6, EpCAM) PRSS1, PRSS2, R122H, N291l, SPINK1, CFTR * Endoscopic evaluation of pancreas scheduled
Exclusion criteria
* Medical comorbidities or coagulopathy that contraindicate endoscopy * Prior surgery that prevent optimal endoscopic ultrasound such as partial or complete gastrectomy with Bilroth or Roux-en-Y anastomosis * Stricture or obstruction in the upper GI tract that does not allow passage of the echoendoscope * Poor performance status * Inability to provide informed consent * Pregnancy.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Evaluate pancreatic juice for early cancer markers. | 10 years | Aim #1: To evaluate pancreatic fluid mutations and circulating pancreatic epithelial cells as accurate markers of neoplasia by comparing their prevalence in cases with sporadic pancreatic neoplasia to healthy and disease controls. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Compare pancreas juice with pancreas cyst fluid | 10 years | Aim #2: To compare the prevalence of pancreatic fluid mutations and circulating pancreatic epithelial cells among a prospective cohort of individuals with sporadic pancreatic cysts undergoing pancreatic surveillance. |
Other
| Measure | Time frame | Description |
|---|---|---|
| Time disease progression and prevalence | 10 years | Aim #3: To determine the prevalence of pancreatic lesions, pancreatic fluid mutations and circulating pancreatic epithelial cells among a large cohort of high-risk individuals undergoing pancreatic screening and surveillance of a new cohort in which screening is begun at age \>55. |
| Diagnostic performance of a tumor marker gene test for CA19-9 interpretation | 5 years | Aim #4 To evaluate the diagnostic performance of a tumor marker gene test to personalize the normal reference range of tumor markers such as CA19-9 for patients undergoing pancreatic surveillance. |
Countries
United States
Contacts
Primary ContactHilary Cosby, RN
Outcome results
None listed