Table 4.

Li-Fraumeni Syndrome: Recommended Surveillance

System/ConcernEvaluationFrequency 1
All cancers Comprehensive 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
  • Every 3-4 mos from birth to age 18 yrs
  • Every 6 mos from age ≥18 yrs
Whole-body MRI 3Annually at all ages
ACC Ultrasound of abdomen & pelvisEvery 3-4 mos from birth to age 18 yrs (not on same visit as whole-body MRI)
Serum total testosterone, dehydroepiandrosterone sulfate, & androstenedioneIf ultrasound is unsatisfactory
Breast cancer Clinical breast examEvery 6-12 mos starting between age 20-25 yrs
Breast MRI w/& w/o contrastAnnually starting between age 20-30 yrs
Mammogram & breast MRI w/& w/o contrastAnnually, alternating mammogram & breast MRI every 6 mos, in those age 30-75 yrs
CNS tumors Brain MRI w/o contrast (initial brain MRI at diagnosis w/contrast) 4Annually
GI cancers Upper endoscopy & colonoscopyEvery 2-5 yrs from age ≥25 yrs
Leukemia/
Lymphoma 		None recommended 5NA
Melanoma Dermatologic examAnnually from age ≥18 yrs
Sarcomas Whole-body MRIAnnually at all ages
Ultrasound of abdomen & pelvisAnnually from age ≥18 yrs
Lung cancer Consider low-dose spiral CTConsider screening adults (need, frequency, & age to begin screening depends on family history of lung cancer &/or history of smoking).
Pancreatic cancer Consider contrast-enhanced MRI/MRCP &/or EUS in a research setting to better delineate risks & benefits of pancreatic cancer surveillance.Consider annually from age ≥50 yrs. 6
Prostate cancer Consider PSA blood test.Consider annually from age ≥40 yrs.
Thyroid cancer Consider thyroid ultrasound.Consider screening children & adults (need, frequency, & age to begin screening depends on family history &/or other risk factors).
Family/Community Assess family need for social work support or follow-up genetic counseling if new questions arise (e.g., family planning). 7At each visit

ACC = adrenocortical carcinomas; CNS = central nervous system; EUS = endoscopic ultrasound; MRCP = magnetic resonance cholangiopancreatography; GI = gastrointestinal; NA = not applicable; PSA = prostate-specific antigen

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 role of whole-body MRI in individuals with LFS [Ahlawat et al 2023]. Benefits of whole-body MRI include significantly increased ability to detect 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 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.

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 are no new clinical manifestations [Kratz et al 2017, Kumamoto et al 2021].

5.

Interim blood counts and inflammatory biomarkers have not been shown to have independent benefit for cancer detection [Oba et al 2022].

6.

National Comprehensive Cancer Network (NCCN) guidelines suggest pancreatic cancer surveillance only if the individual has ≥1 first- or second-degree relative with exocrine pancreatic cancer (www​.nccn.org; subscription required); however, others suggest that pancreatic cancer surveillance should be considered in all individuals with LFS [Abe et al 2021].

7.

Individuals with LFS recognize the value of surveillance but may need additional mental health support and resources due to the burden of intensive surveillance protocols and their personal and family cancer experiences. More research is needed in this area [Forbes Shepherd et al 2021, Barnett et al 2022].

From: Li-Fraumeni Syndrome

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