RATIONALE: Diagnostic procedures such as CT scans and MRI may improve the identification of pancreatic lesions in patients who have von Hippel-Lindau syndrome. Genetic studies may help in understanding the genetic processes involved in the development of some types of cancer.

PURPOSE: Clinical trial to study the effectiveness of diagnostic and genetic tests in identifying pancreatic lesions in patients who have Von Hippel-Lindau syndrome.

Condition	Treatment or Intervention
Neuroendocrine Carcinoma Pancreatic Cancer von Hippel-Lindau Syndrome	Procedure: comparative genomic analysis  Procedure: computed tomography  Procedure: diagnostic test  Procedure: genetic analysis  Procedure: magnetic resonance imaging  Procedure: mutation analysis  Procedure: proteomic profiling  Procedure: ultrasonography

Further Study Details: 

OBJECTIVES:

• Identify pancreatic lesions (e.g., simple cysts, microcystic adenomas, neuroendocrine tumors, or other solid lesions of the pancreas) in patients with von Hippel-Lindau syndrome (VHL).
• Follow patients with VHL and pancreatic manifestations by serial examination with non-invasive imaging studies (e.g., CT scan, MRI, and/or abdominal ultrasound).
• Correlate rate of lesion growth with clinical measures of disease progression (e.g., symptoms) in patients with solid lesions of the pancreas.
• Determine VHL mutation status and subtype the mutations for potential correlation with disease severity in these patients.
• Obtain tissue from the pancreatic lesions of these patients for genetic analysis, including comparative genomic hybridization, tissue proteomics, and cDNA microarray analysis.
• Determine the time from initial presentation with pancreatic tumors to the time that surgery is recommended in these patients.

OUTLINE: Patients undergo non-invasive imaging studies (e.g., CT scan with contrast, MRI, and/or abdominal ultrasound). Blood and urine samples are collected for laboratory analysis. Blood samples are also drawn for genetic germ line mutational analysis.

All patients are offered genetic counseling.

Patients with cystic disease of the pancreas only (no solid lesions) are followed with non-invasive imaging studies at least every 2 years.

Patients with solid lesions of the pancreas that are suspicious for pancreatic neuroendocrine tumors (PNETs) and have not reached size criteria for surgery are followed annually with CT scans and MRI.

Patients with solid lesions of the pancreas that are suspicious for PNETs and have reached size criteria for surgery or are symptomatic for PNETs may undergo surgical management. Patients with cystic disease who develop symptoms attributable to the cysts may also undergo surgical management.

In patients who undergo surgical resection, tissue is removed for further genetic analysis, including comparative genomic hybridization, cDNA microarray analysis, and tissue proteomics.

PROJECTED ACCRUAL: A total of 300 patients will be accrued for this study within 5 years.

Ages Eligible for Study:  12 Years and above,  Genders Eligible for Study:  Both

Criteria

DISEASE CHARACTERISTICS:

• Diagnosis of von Hippel-Lindau syndrome (VHL) by the Urologic Oncology Branch using germ line analysis OR clinical criteria and family history
• Must have at least 1 of the following pancreatic manifestations of VHL documented by a non-invasive imaging study:
• Pancreatic cyst(s)
• Solid lesions suspicious for microcystic adenoma(s)
• Solid enhancing lesions suspicious for pancreatic neuroendocrine tumor(s)
• Any other solid lesion(s) of the pancreas

PATIENT CHARACTERISTICS: Age

• 12 and over

Performance status

• Not specified

Life expectancy

• Not specified

Hematopoietic

• Not specified

Hepatic

• Not specified

Renal

• Not specified

Other

• Willing to return to the National Institutes of Health for follow-up
• Willing to undergo serial non-invasive imaging

PRIOR CONCURRENT THERAPY: Biologic therapy

• Not specified

Chemotherapy

• Not specified

Endocrine therapy

• Not specified

Radiotherapy

• Not specified

Surgery

• Not specified

Maryland
      Warren Grant Magnuson Clinical Center - NCI Clinical Studies Support, Bethesda,  Maryland,  20892-1182,  United States; Recruiting

Study chairs or principal investigators

Steven K. Libutti, MD,  Study Chair,  NCI - Surgery Branch   

Study ID Numbers:  CDR0000304539; NCI-03-C-0145; NCT00062166
Record last reviewed:  June 2003
Last Updated:  December 6, 2004
Record first received:  June 5, 2003
ClinicalTrials.gov Identifier:  NCT00062166
Health Authority: United States: Federal Government
ClinicalTrials.gov processed this record on 2005-04-08