The purpose of this study is to learn more about the growth of brain and spinal cord tumors
and cysts that develop in association with them in patients with von Hippel-Lindau disease.
It will examine how fast the tumors grow and try to determine what factors (for example,
puberty , pregnancy, menopause, blood proteins, etc.) affect their growth.
Patients between the ages of 8 and 75 years who are enrolled in NIH s study of von
Hippel-Lindau disease may be eligible for this 5-year study. Participants will have magnetic
resonance imaging (MRI) of the brain and spinal cord and a thorough neurological history and
examination at the start of the study. A blood sample will be taken for analysis of factors
(hormones or other proteins) that may predict tumor growth. Follow-up clinic visits every 6
months will include a physical and neurological examination, blood tests, and MRI scans of
the brain and spine. If symptoms or tumor growth requires more frequent follow-up, scans will
be done at 3-month intervals.
Surgical removal of brain and spinal cord tumors is currently the treatment of choice when
these lesions cause neurological problems. A better understanding of which tumors are likely
to grow and which will remain stable may help guide physicians in treatment decisions and
avoid unnecessary procedures.
Hemangioblastomas of the cerebellum, brainstem and spinal cord are frequent tumors in
patients with von Hippel-Lindau (VHL) disease. Rarely, these lesions also affect the
cerebrum. Patients often have multiple lesions, many of which are associated with cysts or
syrinx. The current treatment for symptomatic lesions is surgical resection. Focused
radiation is also being used in selected cases in an attempt to provide tumor control. The
natural history of central nervous system (CNS) lesions in patients with VHL has not been
addressed in a prospective study. It is not clear at which point these lesions will begin to
grow, or develop cysts in the cerebellum or syrinx in the spinal cord, and systemic factors
that influence tumor growth have not been identified. By identifying factors that predict or
influence tumor progression or cyst development, we can more accurately recommend surgical or
medical intervention at appropriate times and avoid unnecessary treatment for stable lesions.
This study will collect prospective radiological and clinical data on growth of the central
nervous system (CNS) hemangioblastomas and associated cysts. We will also prospectively
collect information on systemic processes that may influence tumor progression, such as
puberty, menopause, pregnancy, effects of hormone therapy, tumor load, serum VEGF levels,
hemoglobin/hematocrit levels, and erythropoietin.
- INCLUSION CRITERIA:
1. Ages 8-75.
2. Confirmed diagnosis of von Hippel-Lindau disease.
3. Presence of one or more cerebral, cerebellar or spinal cord hemangioblastomas on
4. Provide written informed consent (or assent).
5. Karnofsky Performance Scale Score greater than or equal to 60.
1. Clinically unstable condition.
2. Being treated by any chemotherapy, immunotherapy, or steroids.
3. Allergy to CT or MRI contrast agents.
4. Contraindication to MRI scanning such as surgery that involves metal clips or wires
which might be expected to cause tissue damage or produce image artifacts.