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.


Upcoming Events

Camp UOTS

Camp U.O.T.S. is an annual weeklong, overnight camp for children with cancer and blood disorders who are treated at Nicklaus Children’s Hospital.

Learn more and register

Reviewed by: Ziad A Khatib, MD

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



video
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.

From the Newsdesk

Nicklaus Children's Hospital to offer new rapid genetic test
05/03/2018 — Nicklaus Children's Hospital will be one of a handful in the country to offer a fast turn-around on genome sequencing that can be a key to saving infants with rare and hard-to-diagnose genetic disorders. As seen on The Miami Herald.
Medical Mission to Algeria Helps Children in Need of Spinal Surgeries
03/06/2018 — A group of children in Algeria who underwent complex surgeries as part of a 2016 U.S.-sponsored medical mission have many reasons to celebrate, and can do so with better movement of their limbs.