Research on VHL may lead to a cure for kidney cancer

-- Carole Thibaudeau, La Presse, Montréal, Québec, Canada (Sunday 29 March 1998)

At the National Cancer Institute (NCI) in Bethesda (Maryland), 25-30 research doctors dedicate the majority of their careers to von Hippel-Lindau syndrome.   For the last ten years, more than 500 people affected or at risk for VHL have been investigated or treated in this division of the National Institutes of Health (NIH), one of the most prestigious research centers in the world.

Why deploy so many resources for such a rare condition, which affects only one person in 40,000?

"Because in understanding better the mechanism of how this syndrome works, we hope to find a cure not only for VHL but also for kidney cancer in the general population, and for other vascular tumors," replies Dr. W. Marston Linehan, Chief of the Division of Urologic Oncology at the National Cancer Institute.

Sixteen years ago, Dr. Linehan was part of a scientific team that identified an anomaly on Chromosome 3 among persons suffering from non-hereditary kidney cancer.  "We decided to study the gene responsible for hereditary kidney cancer, a gene now known as the von Hippel-Lindau gene," explains the scientist.

The work took 12 years.  In 1993, Dr. Linehan's team published its results.   The VHL gene was on Chromosome 3, and it's the very same gene that causes sporadic kidney cancer in the general population.

"Our goal is to understand thoroughly the function of this gene, in the hope of finding new treatment strategies for people with VHL, as for those with non-hereditary kidney cancer," explains the researcher.

In fact, doctors are trying to change VHL into a condition controlled by medication, not by repeated surgeries.

Already, the fact of having identified the gene gives us a test to determine whether or not a person carries the genetic flaw that causes VHL.  In families at risk, parents often decide to test an infant at birth.  If this child does not carry the genetic flaw, they can relax.  If the child does have the gene, they can prepare for careful medical follow-up.

A better understanding of the function of the gene permits a certain measure of prediction as to what organ might be affected in a person.

"People affected by VHL who follow a careful regimen of medical screening derive great benefits," stresses Dr. Linehan.  "Treating tumors in time, one can preserve good organ function, and thus a good quality of life.  Life expectancy can thus be very close to normal, though it is too early to have good statistics on this subject."

One of the appreciable advantages for people participating in the research protocol, like Pierre B., for example, is that neither the patient nor his insurance company pays the costs of medical treatment.  The budget for the research program pays for transportation, the 2-3 days of hospitalization, tests, and treatment.  The patient assumes the cost of food and lodging outside the hospital, usually in a nearby hospitality house.

Outside the United States there are research teams in Canada, in England, in France, in Germany, and in Japan.  In Canada, Dr. Jane Green at the Memorial University in St. John's, Newfoundland, follows closely the medical management of six large families with VHL in that province.

Cancer Predisposition

Von Hippel-Lindau syndrome is one of the most prevalent hereditary cancer predisposition factors.  Among affected people, capillaries (the smallest blood vessels), sometimes form little knots or angiomas.  This can cause problems in the surrounding tissues, such as pressure on the brain or spinal cord, or blood leakage.   In the retinas, they can cause problems with vision.

VHL can also cause cysts and tumors in the kidneys, pancreas, liver, and adrenal glands.  A program of careful medical follow-up is needed to avoid the worst possibilities and maintain one's health.  VHL is different in every person, and can sometimes not show up until later in life.  It is a hereditary condition caused by a dominant gene.

Each child has one chance in two of inheriting a dominant gene from the affected parent, and thus has one chance in two of having VHL.

Read the full spread of articles on VHL from La Presse, 29 March 1998:

• A happy life, thanks to the Internet and research
• Paul's kidneys will be saved
• An association of 7,500 members
• Research on VHL may lead to a cure for kidney cancer  (above)
• Cancer predisposition factors  (above)

The French original: Une belle vie, grâce à Internet et à la recherche