Li-Fraumeni Syndrome

Also known as: LFS- TP53 gene mutation.

What is Li-Fraumeni syndrome?

Li-Fraumeni syndrome is a genetic disorder that increases the risk of getting certain forms of cancer in children and adults. Breast cancer, bone cancer and soft tissue sarcomas are a few of the common cancers that result from Li-Fraumeni syndrome. A particular brain tumor – choroid plexus carcinoma- may occur in young infants as well as tumors of the adrenal gland.

What causes Li-Fraumeni syndrome?

Li-Fraumeni syndrome is the result of a genetic mutation. It is often inherited and can be passed along from parents to their children. Some cases have no family history and may be due to random mutations.

What are the symptoms of Li-Fraumeni syndrome?

The enhanced cancer risk is the primary sign of Li-Fraumeni syndrome. If cancer occurs, symptoms such as aches, pains, lumps, headaches, loss of appetite or unexplained weight loss may occur.

What are Li-Fraumeni syndrome care options?

Children with Li-Fraumeni syndrome need to be under close observation due to the high cancer risk. If cancer occurs, it is often treated with surgery to remove the tumor and radiation or chemotherapy to rid the body of cancer and prevent it from spreading.

Surveillance with blood tests, ultrasound of abdomen and MRI of the whole body as well as brain MRI is essential in order to catch any tumor early and improve the success of the treatment.

Genetic counseling and follow up is available through the Cancer Genetics Clinic.

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Reviewed by: Ziad A Khatib, MD

This page was last updated on: 5/2/2018 11:12:16 AM

At just 16 years old, Raquel was diagnosed with Pre-B acute lymphoblastic leukemia. She first noticed something was wrong in the summer of 2015 when she realized she had swollen glands behind her ear.

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