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Primed for cancer: Genetic disorder raises risk
A family confronts a rare genetic disorder that raises the risk for breast, prostate, colon, bone and other cancers
Christian Peytavin’s sister, Kate, doesn’t have Li-Fraumeni, but she worries about her brother and father’s increased risk of cancer, says her mother, Anne. Photo by John Ballance
Christian Peytavin is a typical teenager by all outward appearances. He plays video games and golf, and plans to become a computer programmer.
But two years ago, the high-school junior was diagnosed with a rare hereditary condition that increases the risk of developing multiple cancers, often at an early age. The genetic disorder, called Li-Fraumeni Syndrome, most often is associated with soft tissue and bone sarcomas, breast cancer, brain tumors, leukemia, and adrenocortical carcinoma – a type of adrenal gland cancer.
About half of those with Li-Fraumeni will develop cancer by age 40, and up to 90 percent by age 60.
“It’s called the ticking time bomb disorder,” says 17-year-old Christian. “People who have it may get several different cancers in their lifetime.”
Christian's didn’t know he had the disorder until his father, Lance, was diagnosed with prostate cancer five years ago at age 41. Lance’s cancer proved to be unusual.
“We thought we’d caught it early,” Christian recalls, “but it had already spread to his lymph nodes. Since then, he’s been through two surgeries, one clinical trial, immunotherapy and hormone therapy.”
When Lance’s cancer didn’t go away, he underwent genetic testing in his Louisiana hometown. The results showed a mutation on his TP53 gene. The mutation causes the p53 protein, produced by the gene, to become damaged and unable to do its job of preventing cancerous tumors from developing.
Li-Fraumeni Syndrome was first recognized in 1969 by Drs. Frederick Li and Joseph Fraumeni Jr. while studying pediatric and familial cancers at the National Cancer Institute.
Subsequent research, initiated more than 30 years ago by MD Anderson genetics professor Louise Strong, M.D., helped confirm that TP53 — the most commonly mutated gene in people with cancer — is the underlying cause of Li-Fraumeni. This discovery led to the creation of MD Anderson’s LEAD (Li-Fraumeni Syndrome Education and Early Detection) Program, which tracks Li-Fraumeni families and maintains the largest Li-Fraumeni database in the country.
"We started following patients and families that had several cases of cancer – too many to be a coincidence,” Strong says. The family members we surveyed over the years lived in different locations and had different occupations, so we suspected their cancers had to be connected to a mutation in the genes."
Strong, whose career began in Pediatrics, says she was saddened to see kids survive one cancer only to develop another. Her research opened doors for more studies and discoveries.
Strong has since helped develop a blood test that may indicate the presence of Li-Fraumeni. Several years ago, she teamed with Therese Bevers, M.D., medical director of MD Anderson’s Lyda Hill Cancer Prevention Center, to offer whole-body MRIs that screen for genetic changes in adult patients.
At MD Anderson’s Children’s Cancer Hospital, Najat Daw, M.D., professor of Pediatrics, heads the LEAD Pediatric Screening Program for patients ages 20 years and under. Daw met the Peytavin family through the program when they arrived at MD Anderson for additional genetic testing.
"People with Li-Fraumeni have a 50 percent chance of passing the syndrome along to their children,” Daw says. “It can be stressful for families to make the choice to proceed with genetic testing, but knowing your risk and your children’s risk and taking preventive measures is important. Early detection of cancer has the potential to reduce the morbidity and mortality in individuals with Li-Fraumeni syndrome.”
"I knew this could have a devastating effect on our two children," says Lance’s wife, Anne. "But we had to know, and we felt our kids needed to know, what their risks were for developing cancer so they could start early screening for their best chances at beating any cancers that may develop."
The family took their doctor's advice, and underwent genetic testing. The results revealed that Christian had Li-Fraumeni, but his sister Kate did not.
"I think the news hit Kate the hardest," says Anne. "Knowing that any day can be the day her brother and father are diagnosed with cancer is stressful for us all."
Christian will have frequent physical exams, blood tests and MRIs for the rest of his life to catch cancer early. Lance continues his prostate cancer treatment at MD Anderson where he is regularly screened for other possible cancers through the LEAD program. The family is staying positive and continuing to take one day at a time.
Kate, an aspiring actress and musician, has dedicated several YouTube songs to her father and brother. Christian is taking college-level courses in high school. When he receives a high-school diploma next year, he’ll also be awarded a two-year college associate's degree.
“I’ve learned to just go for it,” he says, “and get the most I can out of life.”
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