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

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

JOURNAL=Frontiers in Oncology

VOLUME=5

YEAR=2015

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2015.00038

DOI=10.3389/fonc.2015.00038

ISSN=2234-943X

ABSTRACT=<p><bold>Purpose:</bold> To evaluate the effectiveness of <sup>18</sup>F-Fluorodeoxyglucose positron emission tomography/computed tomography (<sup>18</sup>F-FDG-PET/CT) for detecting early cancer in carriers of germline <italic>TP53</italic> mutation, the genetic defect underlying Li-Fraumeni and related syndromes, which predisposes to many forms of cancer throughout life.</p><p><bold>Patients and methods:</bold> A total of 30 adult patients from six families with germline <italic>TP53</italic> mutations were recruited. These patients did not have a diagnosis of cancer in the 24 months preceding the study. Anomalous concentrations from whole-body <sup>18</sup>F-FDG-PET/CT were assessed by two independent experts. Suspicious lesions were excised and subjected to pathological examination.</p><p><bold>Results:</bold> A total of 6/30 patients showed abnormal <sup>18</sup>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).</p><p><bold>Conclusion:</bold><sup>18</sup>F-FDG-PET/CT is effective in detecting cancer in subjects who are asymptomatic according to current screening guidelines. These results further suggest that <sup>18</sup>F-FDG-PET/CT is an appropriate method for surveillance of cancer risk in <italic>TP53</italic> mutation carriers.</p>