Li-Fraumeni Syndrome

What is Li-Fraumeni syndrome?

Li-Fraumeni syndrome (LFS) is an inherited predisposition to a number of cancers. Children and young adults are very susceptible to developing cancer, making it important that they are screened regularly. In fact, affected individuals have a 50% chance of having cancer by age 40, and a 90% chance of having cancer by age 60. Because of the heightened risk of breast cancer that is already present for females, there is nearly a 100% chance they will have cancer at some point in their lives. Many affected individuals will develop two or more cancers throughout their lives.

What are the symptoms of Li-Fraumeni syndrome?

The presence of certain cancers, a family history of childhood cancer, or the presence of rare cancers should alert doctors to hereditary cancer syndrome. These cancers are the core cancers associated with this syndrome:

• Osteosarcoma
• Breast cancer
• Tumors of the brain and central nervous system
  • This includes glioma, neuroblastoma, etc.
• Acute leukemia
• Soft tissue sarcoma
• Adrenocortical carcinoma

While these are the core cancers, there are others that often appear, including melanoma, kidney cancer, gastrointestinal tumors, thyroid cancer, lung adenocarcinoma, and gonadal germ cells. 

What causes Li-Fraumeni syndrome?

The TP53 gene on chromosome 17 is mutated in this syndrome. It is a tumor suppressor gene, so when it is altered, it cannot adequately stop malignant tumors from forming. It is inherited in an autosomal dominant pattern, but it is a sporadic mutation in some cases. 

How is Li-Fraumeni syndrome diagnosed?

Genetic testing is the only way to confirm a diagnosis for LFS, and doctors will employ it if patients meet a number of criteria. The criteria follows the lines of receiving a cancer diagnosis before the age of 45 and having relatives that have also received cancer diagnoses before the age of 45. 

What are the treatments for Li-Fraumeni syndrome?

There is no cure for the genetic mutation that causes this syndrome. Doctors suggest that affected individuals practice healthy lifestyles, such as avoiding excessive sun exposure, to decrease any additional risk of cancer. They also suggest regular screenings to detect any cancer early. 

If one does have cancer, they are often treated in the way that all cancer patients are. The only difference is that LFS patients are at an elevated risk for cancers induced by radiation, so doctors should use that therapy with caution. 

Where can I find out more about Li-Fraumeni syndrome?

• • • Li-Fraumeni Syndrome Association
    • NORD
    • NIH