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Solving a Family Cancer Mystery: Li-Fraumeni Syndrome

Kiera Jorgensen in research lab

In Memoriam: Kiera Lee Jorgensen passed away in October 2019. We honor her memory and thank her family for sharing their story.

When Kiera Jorgensen was diagnosed with cancer at the age of 19, she fought not only sarcoma, but also a mystery that had loomed over her family for generations. Then, years after her diagnosis, Kiera found answers to help families like hers better understand a rare genetic mutation.

Saying Kiera’s family has a history of cancer is an understatement. Her grandfather was one of 16 children, and all but four of the siblings passed away from some type of cancer. Still, when Kiera went to the emergency room in pain and a CT scan revealed a mass in her abdomen, the emergency doctors didn’t suspect cancer. The mass was diagnosed as diverticulitis. She was sent home but returned two weeks later with the same pain.

"The surgeon at this particular hospital told me, ‘[The mass] has shrunk—it’s nothing. We’ll wait three months and scan again,’" says Kiera. With the family history of cancer, however, Kiera’s mother insisted on a second opinion and booked an appointment at Huntsman Cancer Institute (HCI). Kiera met with Robert Andtbacka, MD, who scheduled a biopsy. That week, Kiera was diagnosed with pleomorphic sarcoma.

When the tumor was first found, its size would have classified it as stage II cancer. "By the time I had the biopsy it had gone to stage III," says Kiera. "It went from golf ball size to softball size in two months."

Pleomorphic sarcoma is rare and not much is known about which treatments work best. Kiera and her doctors decided on a course of radiation. It turned out to be the right choice. After eight weeks of treatment, the tumor shrunk. Even better, it had surrounded itself in calcium, meaning it couldn’t spread and could be removed with surgery.

After finishing treatment, Kiera wanted to focus her studies on helping others with cancer. She chose to go into nursing and became a certified nursing assistant (CNA).

"I lasted as a CNA for five days," Kiera laughs. "I realized it was definitely not for me."

But nursing classes led Kiera to find genetics research was her true passion. She suspected her family history of cancer had a genetic reason. "I felt like if I went into genetics and research, I could still do something cancer-related and help my family," she says. She transferred to the University of Utah, where an academic advisor encouraged her to look for a job in a lab. Kiera knew she wanted to work at HCI, so she contacted Joshua Schiffman, MD, a cancer investigator at HCI—and himself a childhood cancer survivor—whose lab studies hereditary syndromes that lead to cancers like sarcoma. Kiera was offered and accepted a position in the lab, not knowing it would change the trajectory of her family’s history of cancer.

"When I told my lab-mates my story and my family history, they told me I needed to get tested for Li-Fraumeni syndrome," says Kiera. This rare disorder, caused by a mutation in the P53 tumor suppressor gene, greatly increases the risk of developing several types of cancer. Almost all cases of Li-Fraumeni are hereditary, meaning the mutation passes down from generation to generation.

Kiera met with HCI genetic counselors, which led to her choosing genetic testing. The results showed Kiera does indeed have Li-Fraumeni syndrome.

"It’s crazy that I was working in Dr. Schiffman’s lab before I was diagnosed with Li-Fraumeni syndrome because Dr. Schiffman has one of the leading labs in Li-Fraumeni research," says Kiera. "What are the odds?"

Knowing about her genetic mutation means Kiera can take preventive measures against cancer. She does yearly cancer screenings, gets a full-body and brain MRI, has blood work taken, and meets with several oncologists to watch out for any sign of cancer.

"Cancer had taken so many of my family members because they didn’t know about the mutation," says Kiera. "The attitude was like, ‘Well, I’m going to get cancer eventually but there’s nothing I can do about it.’ Now I can do something about it."

Kiera Jorgensen with her mom, Eleana
Kiera’s mom, Eleana, had genetic testing and found she also has Li-Fraumeni Syndrome (LFS). She began regular cancer screenings, which led doctors to discover kidney cancer and later, breast cancer. Both cancers were found early and Eleana underwent successful treatments.

This discovery has already saved a life. Kiera’s mom, Elena, underwent genetic testing and found she too had Li-Fraumeni. She began regular cancer screenings, which led doctors to discover kidney cancer. The cancer was found so early, though, that it was quickly and easily removed. "The doctors told my mom that they would not have been able to find this cancer if not for the screening because it usually doesn’t come with symptoms."

Kiera’s work in Dr. Schiffman’s lab offers her a unique perspective and opportunity. "I’ve met so many people and families with Li-Fraumeni," she says. Research in the Schiffman Lab contributes to better understanding of the molecular causes of this syndrome. With that understanding, researchers can create better prevention strategies and more ways to screen people.

Kiera is now enrolled in the molecular biology graduate program at the University of Utah and is working towards her doctorate degree. She has a few more years before she completes her degree. After that, she imagines playing a similar role to the professors who inspire her.

"I would love to continue to work on Li-Fraumeni syndrome. That’s my dream because it’s so personal. I’ve been put in a position where I have the chance to help others. I feel very blessed and honored to get to do that."

Learn more about cancers that run in families.

Cancer touches all of us.