F18-Fluorodeoxyglucose–Positron Emission Tomography/Computed Tomography Screening in Li-Fraumeni Syndrome

18F-FDG PET-CT for Surveillance of Brazilian Patients with Li-Fraumeni Syndrome

“…All patients were included in routine LFS/LFL follow-up according to NCCN guidelines and did not show evidence of cancer at the time of enrollment in the study. Our results are compatible with those of the previous study by Masciari et al ( 9 ), who analyzed by 18 F-FDG-PET/CT a group of 15 TP53 mutation carriers (or obligate carriers) with no diagnosis of cancer within 5 years prior to recruitment. They found malignant lesions in three of them (20%) (two cases of thyroid cancer, stages II and III, and one case of adenocarcinoma of the esophagus, stage II).…”

“…The analysis of cumulative rates of occurrence of cancers in TP53 mutation carriers compiled in the IARC TP53 database ( ) ( 11 ) suggests that, in adulthood, between 1 and 2% of mutation carrier develop cancer by each year of age. Our results and those of Masciari et al ( 9 ) identified that 10 and 20%, respectively, of the subjects had a prevalent cancer. This observation suggests that malignant lesions in TP53 mutation carriers may occur at a higher rate than expected on the basis of the data compiled in the IARC database.…”

Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort

“…The 6.9% detection rate of prevalent cancer in this cohort of patients is slightly lower than the 10.0% (3 cancers in 30 individuals) reported by Nogueira et al and the 20.0% (3 cancers in 15 individuals) previously reported in baseline screening with FDG-PET/CT in individuals with LFS . The reports of Villani et al, on which our screening strategy was based, did not explicitly state the number of cancers at the first cancer screening visit; thus, we cannot make a direct comparison of the data.…”

GermlineTP53Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry

“…The typical management for TP53 mutation carriers involves aggressive and early radiographic, laboratory, endoscopic, and sometimes even surgical risk-reduction strategies, based on the notion that TP53 mutations confer a LFS phenotype with a near-100% lifetime risk of malignant disease. 10,46,47 Our study was unable to define the penetrance of our participants’ TP53 alterations, although these findings raise the hypothesis that some pathogenic TP53 mutations do not confer a classic LFS phenotype.…”