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When Nicholas Manias found out he had a tumor on his adrenal gland at age 15, it was by accident. A baseball injury led him to doctors who found the tumor, and he and his family assumed it was a random occurrence and a case of bad luck.

When doctors found another tumor in the same area more than a decade later, Manias thought it was just another isolated event.

But it wasn’t.

Manias was referred to Moffitt Cancer Center, where genetic testing revealed he had Von Hippel-Lindau (VHL) syndrome, a genetic disorder that causes the formation of tumors and cysts in many different parts of the body. It puts an individual at a higher risk for multiple different cancer types, including kidney and brain cancer.  

Because of his diagnosis, Manias and now multiple other family members who tested positive for VHL syndrome, have several different screenings each year, such as abdominal and spinal cord scans and eye exams. This way, if a cancerous tumor popped up, doctors would most likely be able to treat it earlier and easier.

“It’s a double-edged sword,” said Manias. “In the beginning we were ignorant, but we weren’t worried about cancer. But now it’s nice to be surrounded by professionals and doctors who are not only interested in VHL, but also know what’s going on.”

Dr. Philippe Spiess

The medical world is constantly changing, including advancements and increased awareness in genetic testing. “When I started my medical career, we had all these young people having all these kidney surgeries and no one thought they had a genetic disorder,” genitourinary surgical oncologist Dr. Philippe Spiess said.

Now, genetic testing is more widespread and Spiess is hoping to increase awareness of VHL. He is working with the VHL Alliance to establish screening guidelines for individuals with the disease to streamline care for all across the country. “I think we are doing standard care at Moffitt, but if you look at the community there really is no guideline and some providers are doing things differently,” said Spiess. “These guidelines would definitely be very helpful on a broader scale.”

Moffitt currently treats about 60 VHL patients. Just because the mutation is rare doesn’t mean having proper care and access to screening should be, and guidelines would help see to that. “I have been dealing with this since 1990, and until about three to four years ago, we didn’t know what VHL was,” Manias said. “To see the progress and the science happening so fast, it’s great it is getting more and more attention.”

Spiess recommends genetic testing for individuals who have a strong family history of kidney cancer and individuals who have had multiple tumors.