Is there screening or prevention for LFS cancers?
Despite a high lifetime risk of cancer in people with Li-Fraumeni Syndrome, it has been challenging to develop a standard LFS screening test or surveillance protocol. This is in part due to the wide array of genetic tumor types seen in LFS, which occur over a person’s entire lifetime. In those with a prior history of cancer, screening is often patient or family specific based on which cancer developed previously in relatives. Again, working closely with a genetic counselor and trusted physician can help you determine the screening methods that best fits your risk. There are many different tests that might be recommended, ranging from blood tests to ultrasound examinations, possibly MRIs and potentially upper and lower endoscopies.
Women with LFS have a 93% risk of developing cancer over their lifetime. One of the most prevalent cancers seen in these women is breast cancer. It is well accepted that breast cancer screening should begin at an earlier age in young women with LFS. This is done with routine exams, ultrasound/mammography and breast MRI. For details on recommended breast cancer screening please see www.nccn.org under the hereditary cancer section.
There have been recent published articles that use PET/CT for screening, yet this has not been adopted due to concern of excessive radiation exposure. More recently, a protocol using a combination of blood tests, colonoscopy, ultrasound, mammography, breast MRI, brain MRI, whole body MRI, and physical exams was reported. The results demonstrated an increase in survival in the screened group, but the series of tests is fairly intensive and time consuming. The long-term results of such a strategy are not yet known and screening and surveillance strategies should be discussed between the patient and their providers.
There is substantial evidence that Li-Fraumeni Syndrome patients may have an increased sensitivity to ionizing radiation. This is something that should be considered when discussing options for screening and treatment with your doctors.