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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00062166
Recruitment Status : Completed
First Posted : June 6, 2003
Last Update Posted : December 2, 2017
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )

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 as possible. Patients with lesions that are not appropriate for surgery will be asked to return to NIH for scans and x-rays every year to monitor growth of the lesions. If surgery should become advisable in the future, the option will be discussed at that time. Patients with pancreatic cysts will be asked to return to NIH every 2 years for scans and x-rays to monitor their condition.

Condition or disease
Von Hippel-Lindau Disease

  Show Detailed Description

Study Type : Observational
Actual Enrollment : 340 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Evaluation of the Natural History and Management of Pancreatic Lesions Associated With Von Hippel-Lindau
Study Start Date : April 11, 2003
Study Completion Date : November 29, 2017

Primary Outcome Measures :
  1. 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 ]

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

Information from the National Library of Medicine

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Ages Eligible for Study:   12 Years to 80 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Patients who have been diagnosed with VHL using the following criteria: either germ line analysis (12) or clinical criteria and a family history (8, 12) and who have at least 1 pancreatic manifestation of VHL as documented on any non-invasive imaging study. These manifestations include:

  1. Pancreatic cyst(s).
  2. Solid lesions suspicious for microcystic adenoma(s).
  3. Solid enhancing lesions suspicious for PNET(s).
  4. Any other solid lesion(s) of the pancreas.

Age greater than or equal to 12 years of age.

Patients must be willing to return to NIH for follow-up.

Patients/parent must be able to sign an informed consent.


Patients unwilling to undergo serial non-invasive imaging.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00062166

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Cancer Institute (NCI)
Principal Investigator: Electron Kebebew, M.D. National Cancer Institute (NCI)

Responsible Party: National Cancer Institute (NCI) Identifier: NCT00062166     History of Changes
Obsolete Identifiers: NCT01444950
Other Study ID Numbers: 030145
First Posted: June 6, 2003    Key Record Dates
Last Update Posted: December 2, 2017
Last Verified: November 29, 2017

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) ):
Imaging Studies
Rate of Tumor Growth
Familial Cancer Syndrome
Surgical Resection

Additional relevant MeSH terms:
Von Hippel-Lindau Disease
Neurocutaneous Syndromes
Nervous System Diseases
Vascular Diseases
Cardiovascular Diseases