Li-Fraumeni Syndrome

What are the screening options for LFS?

Due to the large variety of cancers associated with LFS and LFL and the limitations in screening for some of these cancers, there are almost no standard screening measures for LFS that are proven to increase early detection of cancer. One exception may be breast cancer screening. For this reason, people at risk for LFS or LFL (and their doctors) should pay careful attention to any unusual or lingering symptoms or illnesses, especially headaches, bone pain, or abdominal pain.

It is important to discuss with your doctor the following screening options, as each person is different:

Annual screening for children at risk

Complete physical examination

Complete blood count

Urinalysis (examination of urine)

Abdominal ultrasound

Additional studies as necessary based on family history (for example, computed tomography [CT or CAT] scan or magnetic resonance imaging [MRI] scan of the head if there is a family history of childhood brain tumors)

Annual screening for adults at risk

Women

Monthly breast self-examination, beginning at age 18

Biyearly clinical breast examinations (examinations performed by a doctor or nurse), beginning between the ages of 20 to 25

Annual mammogram, breast ultrasound, or MRI, beginning between the ages of 20 to 25

All Adults

Targeted studies as necessary based on family history

Full-body positron emission tomography (PET) or MRI scans have been suggested, but the effectiveness of this screening is unknown.

Other ways to reduce risk

Individuals at risk for LFS or LFL should limit their personal exposure to radiation as much as possible; radiation exposure may increase the risk for cancer.

Screening options may change over time as new technologies are developed and more is learned about LFS. It is important to talk with your doctor about appropriate screening tests.