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

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.