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Serena Masciari, MD; Annick D. Van den Abbeele, MD; Lisa R. Diller, MD; Iryna Rastarhuyeva, MD; Jeffrey Yap, PhD; Katherine Schneider, MPH; Lisa Digianni, PhD; Frederick P. Li, MD; Joseph F. Fraumeni Jr, MD; Sapna Syngal, MD, MPH; Judy E. Garber, MD, MPH

JAMA. 2008;299(11):1315-1319.

Context  Individuals with Li-Fraumeni syndrome (LFS) have an inherited cancer predisposition to a diverse array of malignancies beginning early in life; survivors of one cancer have a markedly elevated risk of additional primary tumors. The underlying genetic defect in the majority of the families is a germline mutation in the TP53 tumor suppressor gene. The diversity of tumors and rarity of families have contributed to the difficulty in devising effective screening recommendations for members of LFS kindreds.

Objective  To gather preliminary data with which to evaluate F18-fluorodeoxyglucose–positron emission tomography/computed tomography (FDG-PET/CT) imaging as a potential surveillance modality to detect early malignancies in asymptomatic members of LFS kindreds.

Design, Setting, and Participants  Members of LFS families with documented germline TP53 mutations or obligate carrier status, no history of cancer within 5 years of enrollment, and no symptoms of cancer or ill-health were offered FDG-PET/CT scanning as a screening test in a comprehensive US cancer center from 2006 to 2007. Scans were initially reviewed clinically, then centrally reviewed by an expert radiologist.

Main Outcome Measure  The primary outcome was the detection of new primary cancers using FDG-PET/CT scanning.

Results  Of 15 individuals, baseline FDG-PET/CT scan identified asymptomatic cancers in 3 (20%). Two individuals had papillary thyroid cancers (stage II and stage III) and one individual had stage II esophageal adenocarcinoma.

Conclusions  These preliminary data provide the first evidence for a potential cancer surveillance strategy that may be worthy of further investigation for patients with LFS. Concerns about radiation exposure and other challenges inherent in screening high-risk patients will require further consideration.

Author Affiliations: Division of Population Sciences (Drs Masciari, Digianni, Li, Syngal, and Garber and Ms Schneider), Department of Radiology (Drs Van den Abbeele, Rastarhuyeva, and Yap), and Perini Family Survivors' Center (Dr Diller), Dana-Farber Cancer Institute, Boston, Massachusetts; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland (Dr Fraumeni); and Division of Gastroenterology, Brigham and Women's Hospital, Boston, Massachusetts (Dr Syngal).

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