Genetic Testing Saves Young Mom from Life-Threatening Kidney Cancer

MAYWOOD, IL – Genetic testing can be lifesaving for patients with increased risk of certain cancers, not just for themselves but also for other members of their family. While there has been extensive coverage of the benefits of the BRCA gene test to determine whether a woman has an increased risk of breast cancer, genetic testing for other diseases, including those that increase the risk of kidney cancers, can also be crucial.

After a lung collapse with a "pneumothorax" in 2016 (a collection of air between the lung and chest wall), Debra Teresi continued to experience health problems and was referred to pulmonologist Daniel Dilling, MD, director of Loyola Medicine's Rare Lung Disease Clinic. After taking a look at her CT scan, seeing cysts on her lungs and learning that her brother also had a history of pneumothorax, Dr. Dilling suspected a rare genetic disease called Birt-Hogg-Dubé Syndrome (BHD). He sent Debra for genetic testing that confirmed the diagnosis. BHD is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors, including kidney cancer. Fortunately, MRIs and ultrasounds of Debra's kidneys did not identify any tumors.

After learning she had BHD, Debra was concerned for her adult daughter, Kristy Stolarz. Debra's diagnosis meant there was a 50% chance Kristy had BHD too. A 2022 genetic test confirmed Kristy also had BHD. Although she had no symptoms, Dr. Dilling recommended tests including a CT scan of her lungs and an MRI of her kidneys. The MRI showed a tumor the size of a grapefruit in Kristy's left kidney. Urologic oncologist Gopal Gupta, MD, a specialist in genetic forms of kidney cancer, confirmed the tumor was cancerous. He performed a laparoscopic nephrectomy to remove the tumor before it spread to Kristy's lungs or lymph nodes. "If she hadn't found this disease when she found it," Dr. Dilling said, "this kidney tumor would have grown. It would have spread and threatened her life."

Kristy has two young children, ages 6 and 2, and is relieved she hasn't required any further treatment because the cancer was caught so early. "I love my mom and am grateful that she pushed me to go and get this genetic testing done. I'm just truly blessed honestly that I have people who care and doctors to work with…I mean they're heroes. I can't wait to be with my kids in the future, not have to think about what's next."