Table 3.

Recommended Surveillance for Individuals with Li-Fraumeni Syndrome

System/ConcernEvaluationFrequency
All cancers Complete physical exam w/high index of suspicion for cancer 1
  • Every 3-4 mos, birth to 18 yrs
  • Every 6 mos, ≥18 yrs
Whole-body MRI 2, 3Annually, all ages
ACC Ultrasound of abdomen & pelvisEvery 3-4 mos, birth to age 18 yrs (not on same visit as whole-body MRI)
Serum total testosterone, dehydroepiandrosterone sulfate, & androstenedioneIf ultrasound is unsatisfactory 4
Breast cancer Clinical breast examEvery 6-12 mos, age ≥20-25 yrs
Breast MRI w/& w/o contrastAnnually, age 20-30 yrs
Mammogram + breast MRI w/ & w/o contrastAnnually, age 30-75 yrs
CNS tumors Neurologic examAnnually, all ages
Brain MRI 5Annually
Gastrointestinal
cancers 		Upper endoscopy & colonoscopyEvery 2-5 yrs, age ≥25 yrs 6
Leukemia/
Lymphoma 		None recommended 7NA
Melanoma Dermatologic examAnnually, age ≥18 yrs
Sarcomas Whole-body MRIAnnually, all ages
Ultrasound of abdomen & pelvisAnnually, age ≥18 yrs

NA = not applicable

1.

Complete physical examination should include blood pressure, full neurologic exam, and assessment of growth, sudden weight gain or loss, Cushingoid appearance, or signs of virilization in a child [Kratz et al 2017].

2.

MRI preferably within a clinical trial [NCCN 2019]. A meta-analysis of baseline whole-body (WB)-MRI reported cancers in 7% of individuals screened [Ballinger et al 2017]. Risks of WB-MRI include the high false positive rate (requiring further evaluation to rule out malignancy) and the need for sedation in young children.

3.

Participants with LFS in a WB-MRI screening program reported significant reductions in anxiety following WB-MRI exam. Some individuals with LFS reported an increased sense of control and hope due to participation in a surveillance program, while others reported an increased burden due to multiple visits, extra surveillance, and concerns regarding false positive results [McBride et al 2017].

4.
5.

The first brain MRI should be done with contrast, and subsequent brain MRIs may be done without contrast if the previous MRI was normal and there is no new abnormality [Kratz et al 2017].

6.

Colonoscopy examinations starting at age 25 or five years prior to earliest case of colorectal cancer in the family [NCCN 2019]

7.

Periodic blood tests, such as complete blood count, erythrocyte sedimentation rate, and lactate dehydrogenase, are not generally recommended for individuals with LFS, but can be considered in those at increased risk for MDS or leukemia due to prior cancer treatments [Kratz et al 2017].

From: Li-Fraumeni Syndrome

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