Table 3.

Li-Fraumeni Syndrome: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment 1
All cancers
  • Complete physical exam w/high index of suspicion for cancer (incl blood pressure, full neurologic exam, & assessment of growth, sudden weight gain or loss, cushingoid appearance, or signs of virilization in a child) 2
  • Whole-body MRI w/o contrast 3
At diagnosis (all ages)
Breast cancer
  • Clinical breast exam
  • Breast MRI w/& w/o contrast
Beginning at age 20 yrs
CNS tumors
  • Neurologic exam
  • Brain MRI w/contrast
At diagnosis (all ages); 1st brain MRI is done w/contrast
GI cancers Upper endoscopy & colonoscopyBeginning at age 25 yrs
Melanoma Dermatologic examBeginning at age 18 yrs
Sarcomas Ultrasound of abdomen & pelvis
Genetic counseling By genetics professionals 4 w/experience in cancer genetics counselingTo obtain a pedigree & inform affected persons & their families re nature, MOI, & implications of LFS to facilitate medical & personal decision making
Family support
& resources 		By clinicians, wider care team, & family support organizations 5Assessment of family & social structure to determine need for:

CNS = central nervous system; GI = gastrointestinal; LFS = Li-Fraumeni syndrome; MOI = mode of inheritance

1.

Individuals with a family history of LFS should begin surveillance at the ages listed in this table or 5-10 years before the onset of the cancer in the family, whichever comes first.

2.
3.

Evidence supports the use of whole-body MRI for surveillance in individuals with LFS [Ahlawat et al 2023]. Benefits include significantly increased detection of a variety of tumor types, which is important in a population at risk for diverse cancers. The risks of whole-body MRI include expense, difficulty with access, high false positive rate (especially with the baseline whole-body MRI), and the need for sedation in young children [Consul et al 2021, Kumamoto et al 2021, Ahlawat et al 2023, Kagami et al 2023].

4.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

5.

Individuals with LFS may need mental health support and resources due to the burden of intensive surveillance protocols and their personal and family cancer experiences [Forbes Shepherd et al 2021, Barnett et al 2022].

From: Li-Fraumeni Syndrome

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