F18-fluorodeoxyglucose-positron emission tomography/computed tomography screening in Li-Fraumeni syndrome.
BACKGROUND
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.


METHODS
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.


METHODS
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.
Masciari
Serena
S
Division of Population Sciences, Dana-Farber Cancer Institute, Boston, Massachusetts 02115, USA.
Van den Abbeele
Annick D
AD
Diller
Lisa R
LR
Rastarhuyeva
Iryna
I
Yap
Jeffrey
J
Schneider
Katherine
K
Digianni
Lisa
L
Li
Frederick P
FP
Fraumeni
Joseph F
JF
Syngal
Sapna
S
Garber
Judy E
JE
D000328:Adult; D005240:Feasibility Studies; D005260:Female; D019788:Fluorodeoxyglucose F18; D016158:Genes, p53; D006579:Heterozygote; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009154:Mutation; D009369:Neoplasms / Q000175:diagnosis / Q000235:genetics; D010865:Pilot Projects; D049268:Positron-Emission Tomography; D019275:Radiopharmaceuticals; D036542:Tomography, Spiral Computed; D051598:Whole Body Imaging
D019275:Radiopharmaceuticals; D019788:Fluorodeoxyglucose F18