Learning About Li-Fraumeni Syndrome — A Rare Hereditary Disease
- Lainie Jones, a 41-year-old woman from Florida, has Li-Fraumeni Syndrome (LFS), an genetic disorder that leads to an increased risk of certain cancers, and is now battling glioblastoma, the 7th type of cancer she’s been diagnosed with.
- 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.
Jones, who has also battled breast, adrenal, melanoma, thyroid, sarcoma, and lung cancers, is sharing her story to encourage others on the importance of early detection, and her optimistic outlook is incredibly inspiring to other cancer warriors like herself.
Read MoreJones explained further, “It sucks that I’ve had seven cancers, but at the same time, too, what doesn’t suck is I’m here.
“My purpose every single day is to make sure that someone not only knows my story, but somebody can reach out to me and say, ‘How did you tackle this?'”
View this post on Instagram
Jones’ glioblastoma and lung cancer diagnoses were the most recent of her cancers, which she learned about in November 2023. And her cancer diagnoses have stemmed from her having a genetic disorder that makes her more prone to getting cancer.
Her first cancer diagnosis was at 18-months-old, and it was adrenal cortical carcinoma. Her second was breast cancer in 2008. However, following her treatment, which included a double mastectomy, her friend noticed something on her back, which turned out to be melanoma, she told TODAY.com.
By 2010, followup scans revealed she had thyroid cancer, which metastasized to her chest, a diagnosis which prompted her to get genetic testing.
It was then she discovered she had the rare genetic disorder. She told the news outlet, “I was getting PET scans all the time. PET scans have a high dose of radiation. With Li-Fraumeni syndrome, you have to limit your radiation exposure,” adding, “Genetic testing saved my life because it really has shifted the way the doctors treat me and my protocols. I feel very fortunate.”
Then during one of her followups, when she had ultrasound, doctors learned she had early-stage sarcoma. And thankfully, her recent lung cancer diagnosis was also found at such an early stage that she only underwent four radiation sessions to treat it.
Now she’s urging, “It’s really all about the early detection. Just because your cancer goes away, it’s so important to stay on top of those screenings. … I always say, ‘Once a cancer patient, always a cancer patient.'”
View this post on Instagram
Jones is not focused on her fight against glioblastoma, which she underwent a craniotomy for in November 2023. But just last month, she underwent a second craniotomy as more cancer cells were found.
She told TODAY.com, “I’m going to be starting another type of chemotherapy. I started chemotherapy for a year and then I also did 30 rounds of brain radiation as well.”
Jones will be taking a chemotherapy pill for six months and going for followup checkups which include MRIs.
She wrote in a health update on her Instagram at the start of 2025, “In early December, a virus caused brain swelling, left-side weakness, and confusion, landing me in the neuro ICU for 24 hours @baptisthealthsf. An MRI revealed a lesion alongside the swelling. Thankfully, steroids worked, and I recovered quickly—doing great now!
“This week, I had another brain MRI and detailed ABTI imaging at @mdandersoncancercenter. The lesion appears to be necrotic tissue from radiation (good news), but there’s also some slight tumor activity. Things are moving quickly to determine the next steps. A second craniotomy might be needed, and I’ll discuss the plan with my surgeon on Monday.”
Jones continued, “In true Lainie form I’m ready to tackle this head-on, and there are so many solid options and my team of docs is beyond amazing. The tumor should be the only thing scared right now—it’s about to be obliterated!
“Here’s to good energy and tackling 2025 with strength, surrounded by sooo much love that keeps me remaining #invincible . Invincibility, triple unlocked! ( had to do #hammertime with these pants how could I not). I am *The Early Detective.*”
She concluded, “My mission is to raise awareness about early detection and #prevention while sharing my journey as a 7-time primary cancer survivor living with #lifraumenisyndrome . My message is simple: **cancer is not a death sentence.**
“You can laugh, love, cry, and be silly through it all—but most importantly, **listen to your body** and speak up when something feels off, because **cancer does not discriminate.** You know your body best. If my story saves even one life, I’ve accomplished my goal.”
Jones insists it’s her “purpose” to spread knowledge to others on the importance of getting necessary screenings.
View this post on Instagram
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.
RELATED: What is Lynch Syndrome? And Why Is it Important to Know About for People Fighting Cancer?
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.
Expert Resources On Genetic Testing
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.
Understanding Glioblastoma Tumors
Glioblastoma is considered a central nervous system (CNS) tumor.
According to the National Cancer Institute, the average survival rate of glioblastoma is 15 months with treatment and less than six if left untreated. While there is a five-year survival rate averaging 6 percent, those individuals will never be cancer-free. They must continue receiving radiation and chemotherapy for the rest of their lives.
Glioblastomas are tricky to treat and manage because their cells are heterogeneous, meaning that each one must be individually targeted to slow tumor growth. Surgery cannot remove all the cancer because the tumor burrows into the brain, so the tumor starts to grow again immediately after surgery.
Glioblastoma risk factors can include:
- Prior radiation exposure
- Gender: men are more likely to get glioblastoma than women
- Age: people 50 years or older are more likely to get glioblastoma
- Certain genetic syndromes, including neurofibromatosis, tuberous sclerosis, von Hippel-Lindau disease
Symptoms for glioblastoma can vary depending on the area of the brain where the tumor begins and spreads and its growth rate, according to MD Anderson Cancer Center. But common symptoms of glioblastoma can include:
- Headaches
- Seizures
- Changes in mental function, mood, or personality
- Changes in speech
- Sensory changes in hearing, smell, and sight
- Loss of balance
- Changes in your pulse and breathing rate
Current Options to Treat Glioblastoma
The Food and Drug Administration (FDA) has approved some drug treatments, including temozolomide (Temodar), to help patients living with this aggressive disease.
Temozolomide is a chemotherapy drug patients can take after surgery and radiation therapy.
Dr. Daniel Wahl, professor of radiation and oncology at the University of Michigan, explains Temozolomide is an oral drug that “slows down tumor growth.”
“Patients with GBM have effective treatment options; there are four of them: surgery, radiation, chemotherapy, and tumor targeting fields. These are electric fields that we can use to treat these cancers,” Dr. Wahl said.
Other FDA-approved drugs for treating glioblastoma include lomustine (Gleostine), intravenous carmustine (Bicnu), carmustine wafer implants, and Avastin (bevacizumab).
Avastin is a targeted drug therapy that blocks glioblastoma cells from requesting new blood vessels that feed and allow the tumor to grow.
“Outcomes for these patients are still suboptimal. What I tell my patients is that we have these effective treatments, but what they do is they delay the time to when this tumor comes back. Only in exceptional circumstances would we ever talk about getting rid of one of these cancers,” Dr. Wahl said.
WATCH: Using electric sources to improve glioblastoma treatment.
Fortunately, research is ongoing to improve the prognosis for people battling glioblastoma. One area of promise is tumor-treating fields, which can help extend patients’ lives by two years on average, giving them hope.
Optune, the brand name for the tumor-treating field delivery device, was launched in 2011 and approved by the FDA in 2015. It is a wearable and portable device for glioblastoma treatment for adult patients aged 22 years or older.
“There’s been a very exciting development of tumor treating fields, which are electrical fields that have been applied to the brain,” Dr. Suriya Jeyapalan, a neurologist at Tufts Medical Center, previously told SurvivorNet.
TTFields use low-intensity electric fields to disrupt the cell division process, making it harder for cancerous cells to multiply.
Despite Optune’s hope, not all cancer experts agree with its approach, including Dr. Henry Friedman, a renown neuro-oncologist at Duke Cancer Center.
“Although the National Comprehensive Cancer Network (NCCN) recognizes Optune within its guidelines as a therapy for glioblastoma, many people don’t believe it adds value. At Duke, for example, we don’t consider it a mainstay of therapy,” Dr. Friedman previously told SurvivorNet.
Brain Cancer Clinical Trials Offering Hope
In March 2024, early results in a phase I clinical trial published in The New England Journal of Medicine found three patients who saw significant reductions in their brain tumors, and one of them saw her tumor experience “near-complete tumor regression.”
Researchers made such progress using a form of CAR T-cell Therapy, a cancer treatment that re-engineers the immune system to target cancer from within.
Although the clinical trial phase for this treatment is far from complete, it presents an opportunity for further exploration of treating glioblastoma.
“The CAR T platform has revolutionized how we think about treating patients with cancer, but solid tumors like glioblastoma have remained challenging to treat because not all cancer cells are exactly alike, and cells within the tumor vary. Our approach combines two forms of therapy, allowing us to treat glioblastoma in a broader, potentially more effective way,” Dr. Bryan Choi, a neurosurgeon and associate director of the Center for Brain Tumor Immunology and Immunotherapy, Cellular Immunotherapy Program at Mass General Cancer Center and Department of Neurosurgery said in a news release.
CAR T-cell therapy works by re-engineering a patient’s immune cells into more efficient cancer fighters. The process starts with T-cells, white blood cells that help the immune system respond to threats in the body, such as germs and cancer cells.
After the T-cells are removed from a patient’s blood, doctors use an inactivated virus to insert new genes into them. The new genes carry instructions to create special proteins called receptors on the T-cell’s surface. The modified T-cells are multiplied and then given back to the patient.
Once the re-engineered cells are re-inserted into the body, the T-cells find and attach to a matching protein called an antigen on the surface of the cancer cells.
WATCH: CAR T-Cell Therapy Success Rates and Ability to Improve Quality of Life
Making Sense of a Brain Tumor Diagnosis
According to the American Society of Clinical Oncology (ASCO), brain tumors account for 85-90% of all primary central nervous system (CNS) tumors. They can either be cancerous (malignant) or non-cancerous (benign), and depending on where the tumor forms on the brain, doctors determine its type, potential symptoms, and potential treatment.
Brain tumors impact a person’s brain function and overall health, depending on their size, type, and location within the brain. Tumors that grow big enough and disrupt normal central nervous system functioning can press on nearby nerves, blood vessels, or other tissues. The disrupted central nervous system can present in various ways, making walking or maintaining balance difficult.
However, it’s important to know that brain tumors do not always cause symptoms.
Other signs of brain tumors may include:
- Headaches
- Difficulty speaking or thinking
- Weakness
- Behavioral changes
- Vision changes
- Seizures
- Loss of hearing
- Confusion
- Memory loss
- Treatments for Brain Tumors
Treatment options for brain cancer depend on a variety of factors, including the size and type of the tumor as well as the grade of the tumor.
Surgery, radiation, and chemotherapy are options doctors use to treat brain tumors. Cancer warriors are encouraged to talk to their doctor about their situation and the best treatment options.
WATCH: Treatment Path for Glioma Patients
The prognosis for brain cancer, or how likely it is to be cured, depends on a few things, including:
- The type of brain tumor
- How fast the brain tumor is growing
- The tumor’s location
- If there are DNA changes in the cells of the brain tumor
- If the entire tumor can be removed with surgery
- Your overall health
If you’re been diagnosed, your doctor will be able to help you understand your specific and unique circumstances and how they relate to your prognosis.
Contributing: SurvivorNet Staff
Learn more about SurvivorNet's rigorous medical review process.
