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. 2015 Feb 19:5:38.
doi: 10.3389/fonc.2015.00038. eCollection 2015.

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

Sonia Tereza Santos Nogueira  1 , Eduardo Nóbrega Pereira Lima  2 , Amanda França Nóbrega  1 , Ivone Do Carmo Gonçalves Torres  2 , Marcelo Cavicchioli  2 , Pierre Hainaut  3 , Maria Isabel Waddington Achatz  1
Affiliations

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

Sonia Tereza Santos Nogueira et al. Front Oncol. .

Abstract

Purpose: To evaluate the effectiveness of (18)F-Fluorodeoxyglucose positron emission tomography/computed tomography ((18)F-FDG-PET/CT) for detecting early cancer in carriers of germline TP53 mutation, the genetic defect underlying Li-Fraumeni and related syndromes, which predisposes to many forms of cancer throughout life.

Patients and methods: A total of 30 adult patients from six families with germline TP53 mutations were recruited. These patients did not have a diagnosis of cancer in the 24 months preceding the study. Anomalous concentrations from whole-body (18)F-FDG-PET/CT were assessed by two independent experts. Suspicious lesions were excised and subjected to pathological examination.

Results: A total of 6/30 patients showed abnormal (18)F-FDG-concentration. Confirmation studies revealed three cases of cancer, including one lung cancer, one ovarian cancer, and one disseminated breast cancer. Three patients had non-malignant lesions (one Bartholin's cyst and two cases of reactive lymph nodes).

Conclusion: (18)F-FDG-PET/CT is effective in detecting cancer in subjects who are asymptomatic according to current screening guidelines. These results further suggest that (18)F-FDG-PET/CT is an appropriate method for surveillance of cancer risk in TP53 mutation carriers.

Keywords: Li-Fraumeni; PET-CT; oncogenetic; p.R337H; screening.

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Figures

Figure 1
Figure 1
Pedigree of family Y0029. The index patient is indicated by an arrow. Full boxes/circles: patient affected by a malignant tumor. Age of onset and tumor type are given below each patient’s symbol.
Figure 2
Figure 2
Anomalous concentration of 18F-FDG in index patient of family Y0029. Left panel: anomalous signal in bone projections of bone corresponding to predominantly intramedullary lesions. The arrow points to a lesion with SUV 5.80. Right panel: anomalous signal in the liver. The arrow points to a lesion with SUV 2.13.
Figure 3
Figure 3
Image fusion of PET with CT showing anomalous concentration of 18F-FDG. A lesion localized in the apical pulmonary region is shown (SUV 1.76).
See this image and copyright information in PMC

References

    1. Palmero EI, Achatz MI, Ashton-Prolla P, Olivier M, Hainaut P. Tumor protein 53 mutations and inherited cancer: beyond Li-Fraumeni syndrome. Curr Opin Oncol (2010) 22:64–9.10.1097/CCO.0b013e328333bf00 - DOI - PubMed
    1. Li FP, Fraumeni JF., Jr Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann Intern Med (1969) 71:747–52. - PubMed
    1. Birch JM, Alston RD, McNally RJ, Evans DG, Kelsey AM, Harris M, et al. Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene (2001) 20:4621–8.10.1038/sj.onc.1204621 - DOI - PubMed
    1. Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, et al. Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res (2003) 63:6643–50. - PubMed
    1. Birch JM, Hartley AL, Tricker KJ, Prosser J, Condie A, Kelsey AM, et al. Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res (1994) 54:1298–304. - PubMed