Clinical Trial: Natural History and Management of Pancreatic Lesions in Von Hippel-Lindau Disease

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Evaluation of the Natural History and Management of Pancreatic Lesions Associated With Von Hippel-Lindau

Brief Summary:

Von Hippel-Lindau disease (VHL) is an inherited cancer syndrome. Patients are at risk for developing pancreatic cysts and tumors. These tumors are more aggressive in some people than in others. To learn more about this disease, its genetic cause and how best to treat it, this study will 1) identify patients with VHL who have pancreatic lesions; 2) examine the characteristics of the lesions and how fast they grow; 3) study how well imaging tests can reveal lesion characteristics that will help in diagnosis; and 4) perform genetic studies using blood and, when possible, tissue samples.

Patients 12 years of age and older with VHL involving the pancreas may be eligible for this study. Participants will undergo some or all of the following tests and procedures:

  • Interviews with a cancer doctor, cancer nurses, and a surgeon (if surgery is recommended).
  • Computed tomography (CT) scan of the abdomen, chest, or pelvis. This test uses x-rays to produce images of body tissues and organs in small sections.
  • Magnetic resonance imaging (MRI) of the abdomen. This test uses radio waves and a strong magnetic field to produce images of body tissues and organs.
  • Ultrasound of the abdomen. This test uses sound waves to create images body tissues and organs.
  • Blood tests for routine laboratory chemistries, for tests specific to the pancreas, and for genetic studies
  • 24-hour urine studies

After the tests are completed, the doctor will discuss the results with the patient. Patients with a pancreatic tumor that requires surgery will be offered the option of an operation to remove as much tumor

Detailed Summary:

Background:

Patients with the familial cancer syndrome von Hippel-Lindau (VHL) demonstrate manifestations in a variety of organs among them the pancreas. Pancreatic manifestations can range from benign cysts and micro cystic adenomas to neuroendocrine tumors of the pancreas which are capable of regional and distant spread. These neuroendocrine tumors can result in life-threatening complications.

This protocol is designed to identify VHL patients with pancreatic manifestations and to follow these patients with serial imaging studies and germ line and tissue genetic analysis.

Objectives:

To identify patients with VHL having pancreatic lesions defined by simple cysts, microcystic adenomas, neuroendocrine tumors and other solid lesions of the pancreas.

To follow patients with VHL and pancreatic manifestations by serial examination with non-invasive imaging studies.

For patients with solid lesions of the pancreas, to determine the rate of growth and to correlate the growth rate with clinical measures of disease progression.

To validate non-invasive imaging methods for differentiating benign solid lesions from lesions with malignant potential.

To characterize the time from initial presentation with pancreatic tumors to the time that surgery is recommended.

Eligibility:

Patients greater than or equal to 12 years of age who have been diagnosed with VHL.

Patients/parent must be able to sign
Sponsor: National Cancer Institute (NCI)

Current Primary Outcome: To identify patients with VHL having pancreatic lesions defined by simple cysts, microcystic adenomas, neuroendocrine tumors and other solid lesions of the pancreas. [ Time Frame: Ongoing ]

Original Primary Outcome:

Current Secondary Outcome:

  • To obtain blood samples from patients to determine VHL mutation status and subtype the mutations for potential correlation with disease severity. [ Time Frame: Ongoing ]
  • When possible, to obtain tissue from pancreatic lesions for genetic analysis including CGH, tissue proteomics, and cDNA microarray analysis. [ Time Frame: Ongoing ]


Original Secondary Outcome:

Information By: National Institutes of Health Clinical Center (CC)

Dates:
Date Received: June 5, 2003
Date Started: April 10, 2003
Date Completion:
Last Updated: April 21, 2017
Last Verified: November 29, 2016