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“In med school, doctors are taught ‘when you hear hoof beats, think horse, not zebra,’” says Jenny Gray. “But in our case, we’re unicorns.”
What makes Jenny a “unicorn” is Li-Fraumeni syndrome (LFS). This rare disorder greatly increases the risk of developing several types of cancer throughout a person’s lifetime. LFS is caused by a mutation in the TP53 gene, which acts to suppress tumors when working as it should. LFS can occur spontaneously or it can be hereditary, meaning the broken TP53 gene is passed down from generation to generation.
In Jenny’s case, her mother and maternal grandfather were both diagnosed with brain cancer in their thirties. At the time, they did not know about LFS. Both passed away in their early fifties. Jenny and her family wondered if the cancer had a genetic link, but they weren’t sure.
Always an athlete, Jenny loved running. In 2015, her knee started bothering her. Doctors suspected a sports-related injury and referred Jenny to a physical therapist. She cut back on exercise. The following year at the age of 31, Jenny found out she was pregnant. As her pregnancy progressed, it became more and more painful to walk.
An MRI showed she had a softball-sized tumor in her leg. The doctors originally thought it was benign, but “I knew it was cancer,” Jenny says. “I just had a gut feeling.” She was diagnosed with osteosarcoma, a rare and aggressive type of bone cancer. While she was pregnant, Jenny underwent surgery to amputate her leg. She carried her son for almost 35 weeks, then was induced so she could begin high-dose chemotherapy.
“From my diagnoses to my son’s birth, I had been doing all this research,” Jenny says. Suspecting her cancer diagnosis was somehow linked to her mother’s and grandfather’s, Jenny had genetic testing. That confirmed she has LFS. Her son inherited the syndrome as well.
“That’s been the most devastating thing in this whole process—the timing. The right questions had been asked for a long time—since the early ’90s by my parents. Granted, there would have been no saving me from LFS, but had we known, we could have taken steps to make sure my son didn’t have it,” she explains. Also, if Jenny had known she had LFS, her tumor could have been discovered earlier, perhaps avoiding the need to amputate her leg. Now, Jenny and her son are screened on a regular basis to look for new tumors so if any are found, they will be small and treatable.
Joshua Schiffman, MD, is a pediatric oncologist at Huntsman Cancer Institute (HCI) and a professor of pediatrics and adjunct professor of oncological sciences at the University of Utah. He specializes in TP53 mutations and LFS. In January 2021, Dr. Schiffman, along with HCI’s Wendy Kohlmann, genetic counselor, and Jo Anson, clinical research coordinator, invited Jenny and two other LFS patients—Jenn from Massachusetts and Trishia from Washington—to share their experiences as LFS “unicorns.” All three talk about their cancer diagnoses, when they discovered they had LFS, how their families are affected, and the importance of ongoing medical surveillance to check for new cancers.
Originally intended for medical students, these stories may be useful to others with LFS or families with genetic conditions that increase cancer risk.
“Germline p53 mutation is much, much more than just a diagnosis in a textbook,” Dr. Schiffman says. “There are real people and real lives behind this syndrome.”
We invite you to listen to the conversation.