The pilot study recruited 15 healthy members of Li-Fraumeni families carrying the TP53 mutation and who had not been diagnosed with cancer in the past five years. Many of the volunteers were members of Li-Fraumeni families who had participated in research through Dana-Farber and the NCI for many years.

The combined PET/CT images revealed thyroid cancer in a 31-year-old breast cancer survivor and in a 48-year-old survivor of breast cancer and a childhood sarcoma. In addition, a 36-year-old man with no cancer history was found to have a tumor at the junction of his esophagus and stomach. All were given potentially curative treatments, the researchers said. Subjects are currently being followed one year later.


Whether earlier detection of tumors in LFS patients will translate into increased survival remains to be shown in longer-term studies, the scientists said. Another uncertainty is whether the potential benefit from periodic screening would outweigh the risks that the radiation exposure might trigger cancers in the cancer-prone LFS patients. Each PET/CT scan exposes the individual to an amount of radiation that is half of the allowable annual limit for a worker in the radiation industry, according to the paper. Still more questions exist about when to begin screening with imaging or colonoscopy in childhood, adolescence or adulthood.

"We will need to be cautious about the radiation issue, and to determine what is best for the patients in terms of a screening schedule," said Serena Masciari, MD, lead author. "We also need to know if there is a high rate of false-positive findings from screening that would have to be followed up," she added.

In addition to Li and Fraumeni, other authors include Lisa R. Diller, MD, Iryna Rastarheyva, MD, Jeffrey Yap, PhD, Katherine Schneider, MPH, and Lisa DiGianni, PhD, all of Dana-Farber, and Sapna Syngal, MD, of Dana-Farber and Brigham and Women's Hospital.

The research was supported by the Perini Family Survivors' Center at Dana-Farber, the Swim Across America Foundation, and the Starr Foundation.

Dana-Farber Cancer Institute (www.dana-farber.org) is a principal teaching affiliate of the Harvard Medical School and is among the leading cancer research and care centers in the United States. It is a founding member of the Dana-Farber/Harvard Cancer Center (DF/HCC), designated a comprehensive cancer center by the National Cancer Institute.


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