At this time, there is no standard treatment or cure for LFS or a germline TP53 gene variant. With some exceptions, cancers in people with LFS are treated the same as for cancers in other patients, but research continues on how to best manage those cancers involved in LFS.
Research has indicated that those individuals with LFS appear to be an elevated risk for radiation-induced cancers, so the use of radiotherapy should be approached with caution. For this reason, computed tomography (CT) scans and other diagnostic techniques involving ionizing radiation should be limited. However, radiation therapy should not be avoided if the benefits outweigh the risks.
Since those living with LFS are susceptible to the development of a number of different cancers, individuals should ensure that they incorporate simple measures into a healthy lifestyle, such as sun protection and the avoidance of tobacco products.
It has been widely accepted that early cancer detection can greatly increase overall survival, and those diagnosed with LFS should seek to adhere to preventive screening. An expert panel of LFS researchers, oncologists, and genetic counselors has published surveillance recommendations that utilize whole body MRI screening for patients with LFS. This should be offered as soon as the diagnosis of LFS is established. In brief, the screening recommendations involve:
Children (birth to age 18 years)
- General assessment
o Complete physical exam every 3-4 months
o Prompt assessment with primary care physician for any medical concerns - Adrenocortical carcinoma
o Ultrasound of abdomen and pelvis every 3-4 months
o In case of unsatisfactory ultrasound, blood tests every 3-4 months - Brain tumor
o Annual brain MRI (first MRI with contrast – thereafter without contrast if previous MRI normal with and no new abnormality - Soft tissue and bone sarcoma
o Annual whole body MRI
- Adults
General assessment
o Complete physical exam every 6 months
o Prompt assessment with primary care physician for any medical concerns - Breast cancer
o Breast awareness (age 18 years and forward)
o Clinical breast exam twice a year (age 20 years and forward)
o Annual breast MRI screening (ages 20-75) – ideally, alternating with annual whole body MRI (one scan every 6 months)
o Consider risk-reducing bilateral mastectomy (Note that the use of ultrasound and mammography has been omitted) - Brain tumor (age 18 years and forward)
o Annual brain MRI (first MRI with contrast – thereafter without contrast if previous MRI normal) - Soft tissue and bone sarcoma (age 18 years and forward)
o Annual whole body MRI
o Ultrasound of abdomen and pelvis every 12 months - Gastrointestinal cancer (age 25 years and forward)
o Upper endoscopy and colonoscopy every 2-5 years) - Melanoma (age 18 years and forward)
o Annual dermatologic examination
Also noted, for families in which breast cancer has already made an appearance at or around age 20 – awareness and screening can be considered 5 to 10 years before the earliest age of onset known. The same is recommended for gastrointestinal cancers – consider screening 5 years before the earliest known onset of a gastrointestinal cancer in the family.
See Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome (June 2017) for more information.
Investigational Therapies
Numerous strategies using small molecule drugs to reactivate or modify dysfunctional TP53 protein are being actively studied, but not yet in clinical trials with LFS patients.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.