Read Time: 3 minutes
鈥淚n med school, doctors are taught 鈥榳hen you hear hoof beats, think horse, not zebra,鈥欌 says Jenny Gray. 鈥淏ut in our case, we鈥檙e unicorns.鈥
What makes Jenny a 鈥渦nicorn鈥 is Li-Fraumeni syndrome (LFS). This rare disorder greatly increases the risk of developing several types of cancer throughout a person鈥檚 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鈥檚 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鈥檛 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 鈥淚 knew it was cancer,鈥 Jenny says. 鈥淚 just had a gut feeling.鈥 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.
鈥淔rom my diagnoses to my son鈥檚 birth, I had been doing all this research,鈥 Jenny says. Suspecting her cancer diagnosis was somehow linked to her mother鈥檚 and grandfather鈥檚, Jenny had genetic testing. That confirmed she has LFS. Her son inherited the syndrome as well.
鈥淭hat鈥檚 been the most devastating thing in this whole process鈥攖he timing. The right questions had been asked for a long time鈥攕ince the early 鈥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鈥檛 have it,鈥 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鈥檚 Wendy Kohlmann, genetic counselor, and Jo Anson, clinical research coordinator, invited Jenny and two other LFS patients鈥擩enn from Massachusetts and Trishia from Washington鈥攖o share their experiences as LFS 鈥渦nicorns.鈥 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.
鈥淕ermline p53 mutation is much, much more than just a diagnosis in a textbook,鈥 Dr. Schiffman says. 鈥淭here are real people and real lives behind this syndrome.鈥
We invite you to listen to the conversation.
Very special thanks to Jenny Gray, Jenn Perry, and Trishia Shelly Stevens for sharing their stories.
For more information about LFS:
- at Huntsman Cancer Institute
