Learning About Li-Fraumeni Syndrome — A Rare Hereditary Disease
- Rylee Monahan, a 14-year-old from Royersford, Pennslyvania, has Li-Fraumeni Syndrome (LFS), an genetic disorder that leads to an increased risk of certain cancers, along with her father Ryan Monahan, 45, and her sister Madison, 17.
- Despite battling three cancers at once, her parents are hoping for a “breakthrough” and refuse to give up hope.
- Li-Fraumeni syndrome is a rare disorder that increases the risk of developing certain cancers, especially in children and young adults. It’s comparable to Lynch syndrome in that it elevates cancer risk factors.
- The cancers most often linked to Li-Fraumeni syndrome are breast cancer, osteosarcoma (a bone cancer), and cancer of the soft tissue (i.e., muscle), soft tissue sarcoma. This syndrome can also lead to brain tumors, leukemia, and adrenocortical carcinoma.
- Genetic screening before birth and after has now made screening for rare inherited diseases more possible. Experts say this testing should always be accompanied by a genetic counselor who can families understand the results.
- Discovering that you or a family member have Lynch syndrome, Li-Fraumeni syndrome, or the BRCA1 and BRCA2 gene mutation, which increases the risk of developing breast and ovarian cancer, can be life-saving.
The brave teen inherited the disease from her dad, who has fought four types of cancer since he was a child. Rylee is now battling three different types of cancer—and her parents are hoping for a “breakthrough.” Their story has just been profiled by The Philadelphia Inquirer.Read More
Ryan dubbed cancer research as taking “shots on goal,” as the more attempts to find a cure, the more likely it’ll occur. He wants his daughter’s doctors to use experimental treatments if possible.
“Rylee’s probability of surviving is very, very low,” he told The Inquirer. “Our objective is to keep her alive and healthy until there is a breakthrough.”
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Rylee’s dad, whose mom repeatedly told him “never let cancer define you,” is an inspiration to anyone battling childhood cancer as he was diagnosed at age 11 with osteosarcoma, a type of bone cancer on his right femur.
Instead of getting his leg amputated, he underwent surgery with a “cadaver bone, screws and metal plates” to save his limb, the news outlet explains.
He didn’t find out he had Li-Fraumeni Syndrome (LFS) until years after he married his wife in 2002. It was following his diagnosis of melanoma and soft-tissue leiomyosarcoma.
Recounting what he told his childhood surgeon, Dr. Richard Lackman of Thomas Jefferson University Hospital, he said, “I’m either the unluckiest person in the world, or something is going on.”
In 2012, when Ryan’s cadaver bone was replaced with a metal prosthesis, Dr. Lackman suggested he and his daughters undergo genetic testing.
Pediatrician Garrett Brodeur, the leader of CHOP’s Cancer Predisposition Program, explained to the Inquirer how undergoing genetic testing (via a blood test at CHOP) would allow Ryan’s daughter’s, who were 7 and 4 at the time, to be proactive in their health.
Dr. Brodeur explained, “Some people describe having a predisposition to sort of a Damocles sword. There’s a sword hanging over your head, held by a thread or a rope, and you never know when, or if, it’s going to fall,” adding that it’s better to fund and treat a “grape-sized tumor” instead of a “grapefruit”-sized one.
Now, Rylee, Madison, and their dad, who learned he had stage 4 lung cancer in 2018, undergo full-body MRI scans annually.
In 2019, a “barely visible” brain tumor was discovered via scan in her left-frontal lobe, which followed a 13-hour brain surgery and 33 rounds of proton radiation treatment. However, the tumor returned and she needed two additional brain surgeries.
Then, when her mom noticed a bump on the back of her head, Ryle learned she had a type of bone cancer, and she later needed two skull surgeries. Her brain tumor eventually showed up again on her right-frontal lobe. and her most recent biopsy last month revealed she may have ovarian cancer.
Now, as Ryan is cancer-free with the help of an immunotherapy treatment and his family continues to raise awareness for the rare hereditary disease, he insists people, like themselves, should “live life the best you can in between the cancer.”
Hi wife told the Inquirer, “Cancer already takes enough from you. You can’t let it take away your joy. You can’t let it steal every piece of happiness.”
Genetic Testing & Cancer Mutations
Li-Fraumeni syndrome is a rare disorder that increases the risk of developing certain cancers, especially in children and young adults. It’s comparable to Lynch syndrome in that it elevates cancer risk factors.
The cancers most often linked to Li-Fraumeni syndrome are breast cancer, osteosarcoma (a bone cancer), and cancer of the soft tissue (i.e., muscle), soft tissue sarcoma. This syndrome can also lead to brain tumors, leukemia, and adrenocortical carcinoma.
Discovering that you or a family member have Lynch syndrome, Li-Fraumeni syndrome, or the BRCA1 and BRCA2 gene mutation, which increases the risk of developing breast and ovarian cancer, can be life-saving.
WATCH: What is a BRCA Mutation?
Knowledge equals power, and when you can have this syndrome or gene mutation, you can screen for specific cancers at a younger age and more frequently than you may otherwise; this can lead to life-saving discoveries and allow for earlier treatment should a cancer present.
Getting Genetic Testing for Your Kids — a Tough, but Crucial Call
If you have a genetic mutation that predisposes you to cancer, and you have children, you’re going to have to make a really crucial decision about how much you want to share with them about your mutation, and whether to advise them to get tested themselves.
Lynch Syndrome is hereditary, you can get it from either parent and if you do, you will have an 80% chance of developing colon cancer in your lifetime. Dubin ultimately decided to be honest with his sons about his Lynch Syndrome, and the fact that there’s a chance that they have it too.
“We are very open with the boys because there’s a 50/50 chance of essentially them inheriting my mutation,” Dave previously told SurvivorNet.
“We also made a point to wait until they turned 18 before they had their genetic testing done. When they turn 18, it’s their decision. We felt it was important that they had a right to say no, if they didn’t want to have it done.”
What are Sarcomas?
If you get a diagnosis of common cancer, such as breast cancer, you might already have some sense of what that means. But what if you learn you have a sarcoma cancer? These are much rarer and less likely to be discussed in casual office visits or among friends, something Ryan Monahan understand all too well.
This rare and diverse group of diseases accounts for only about one percent of adult tumors and just over 10 percent of tumors in children.
Sarcoma is the general term describing an array of cancers, more than 70, that begin in the bones and in the soft tissues (that includes muscles, fat, blood vessels, tendons, nerves, and joint linings). Osteogenic sarcoma, also called osteosarcoma, starts in the bone, often forming as a young person grows.
“Sarcomas are rare, and the cause in most patients is unknown,” Dr. Vishal Gupta, site director of Radiation Oncology at The Blavatnik Family Chelsea Medical Center at Mount Sinai, previously told SurvivorNet.
WACTH: Teen Documents His Osteosarcoma Battle
The typical symptom of sarcomas is a slow-growing, painless mass. But sarcoma can be hard to detect through symptoms. “Unfortunately, most sarcomas do not cause many of the symptoms that may be associated with other cancer,” Dr. Dale Shepard, director of the Cleveland Clinic Taussig Cancer Institute Phase I and Sarcoma Programs, told SurvivorNet in an earlier interview.
Shepard went on to say that this often leads to large tumors at the time of diagnosis. “Soft tissue sarcomas are typically painless,” he explained.
“Bone sarcomas may be mistaken for orthopedic injuries. A mass the size of a golf ball or larger and growing should be evaluated as a potential sarcoma. Patients who do have symptoms mustn’t be dismissive of them.”
Contributing: SurvivorNet Staff