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

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.

Sex

All

Minimum age

12 Years

Maximum age

80 Years

* INCLUSION CRITERIA:

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:

1. Pancreatic cyst(s).
2. Solid lesions suspicious for microcystic adenoma(s).
3. Solid enhancing lesions suspicious for primitive neuroectodermal tumor (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 National Institutes of Health (NIH) for follow-up.

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

EXCLUSION CRITERIA:

Patients unwilling to undergo serial non-invasive imaging.

• BACKGROUNDClifford 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
• BACKGROUNDGlenn 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
• BACKGROUNDGnarra 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