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

NCT00062166 | Completed Results

• 2 other identifiers: 03014503-C-0145
• Study Type: observational
• Target: 340
• Locations: 1 country
• Sites: 1

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 National Institutes of Health (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.

Conditions

Von Hippel-Lindau Disease

Keywords

Imaging Studies; Rate of Tumor Growth; Familial Cancer Syndrome; Surgical Resection

Outcome Measures

Primary Outcomes (1)

• Number of Patients With Pancreatic Lesions Defined by Simple Cysts, Microcystic Adenomas, Neuroendocrine Tumors & Other Solid Lesions of the Pancreas Who Had Significant Growth in Lesions or Symptoms Related to the Lesions Requiring Surgical Intervention

  Pancreatic lesions defined by simple cysts, microcystic adenomas, neuroendocrine tumors and other solid lesions of the pancreas were evaluated by 18F Fludeoxyglucose (18F-FDG-PET) imaging to determine if the participant developed metastatic disease (e.g. tumor spreads to different organs).

  8 years

Secondary Outcomes (4)

• Percentage of Participants With Exon 3 Mutation Compared to Participants With Exon 1 or 2 Von Hippel Lindau (VHL) Mutations Who Required an Intervention

  8 years

• Number of Participants From Which We Obtained Tissue From Pancreatic Lesions and Normal Tissue for Genetic Analysis

  initiation of study therapy until 2009, approximately 6 years

• Count of Participants With Serious and Non-serious Adverse Events Assessed by the Common Terminology Criteria in Adverse Events (CTCAE v4.0)

  8 years

• Number of Participants With Missense or Non-missense Mutations

  8 years

Eligibility Criteria

• Age: 12 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with Von Hippel-Lindau (VHL) disease. Von Hippel-Lindau (VHL) is an inherited cancer syndrome. Patients are at risk for developing pancreatic cysts and tumors. Other tumors include kidney cancers, pheochromocytoma, eye and central nervous system tumors. These tumors occur at a higher frequency rate than normal population.

You may qualify if:

• Patients who have been diagnosed with Von Hippel Lindau (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:
• Pancreatic cyst(s).
• Solid lesions suspicious for microcystic adenoma(s).
• Solid enhancing lesions suspicious for primitive neuroectodermal tumor (PNET)(s).
• 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 National Institutes of Health (NIH) for follow-up.
• Patients/parent must be able to sign an informed consent.

You may not qualify if:

• Patients unwilling to undergo serial non-invasive imaging.

Sponsors & Collaborators

• National Cancer Institute (NCI): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Clifford SC, Maher ER. Von Hippel-Lindau disease: clinical and molecular perspectives. Adv Cancer Res. 2001;82:85-105. doi: 10.1016/s0065-230x(01)82003-0.

  PMID: 11447766 BACKGROUND

• Glenn GM, Daniel LN, Choyke P, Linehan WM, Oldfield E, Gorin MB, Hosoe S, Latif F, Weiss G, Walther M, et al. Von Hippel-Lindau (VHL) disease: distinct phenotypes suggest more than one mutant allele at the VHL locus. Hum Genet. 1991 Jun;87(2):207-10. doi: 10.1007/BF00204184.

  PMID: 2066108 BACKGROUND

• Gnarra JR, Duan DR, Weng Y, Humphrey JS, Chen DY, Lee S, Pause A, Dudley CF, Latif F, Kuzmin I, Schmidt L, Duh FM, Stackhouse T, Chen F, Kishida T, Wei MH, Lerman MI, Zbar B, Klausner RD, Linehan WM. Molecular cloning of the von Hippel-Lindau tumor suppressor gene and its role in renal carcinoma. Biochim Biophys Acta. 1996 Mar 18;1242(3):201-10. doi: 10.1016/0304-419x(95)00012-5. No abstract available.

  PMID: 8603073 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

whole blood and tissue samples.

MeSH Terms

Conditions

von Hippel-Lindau Disease

Condition Hierarchy (Ancestors)

Neurocutaneous Syndromes; Nervous System Diseases; Angiomatosis; Vascular Diseases; Cardiovascular Diseases; Ciliopathies; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Results Point of Contact

• Title: Dr. Naris Nilubol
• Organization: National Cancer Institute

niluboln@nih.gov

301-451-2355

Study Officials

• Naris Nilubol, M.D.

  National Cancer Institute (NCI)

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: June 5, 2003
• First Posted: June 6, 2003
• Study Start: April 11, 2003
• Primary Completion: November 29, 2017
• Study Completion: November 29, 2017
• Last Updated: November 14, 2018
• Results First Posted: November 14, 2018

Record last verified: 2018-10

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)