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Scans spot hidden tumors in rare cancer syndrome
Date:3/18/2008

ls with LFS, the chance of developing any cancer has been estimated at 50 percent by age 30, and 90 percent by age 60. A survivor of one cancer has a high risk of developing a new malignancy over time.

The syndrome is usually diagnosed after several members of a family develop early-onset tumors, prompting a test for the mutated gene. At present, there is no specific screening test to detect cancers before they become symptomatic in people carrying the Li-Fraumeni mutation because they are prone to such a wide variety of cancer types.

"We decided to study this in the adult LFS population because PET/CT scanning is used in the care of many of the type cancers that occur in LFS. Both LFS families and physicians have been frustrated by the lack of information for families with a rare and burdensome condition," said Judy Garber, MD, MPH, senior author of the paper and director of Dana-Farber's Cancer Risk and Prevention Clinic.

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
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Contact: Bill Schaller
william_schaller@dfci.harvard.edu
617-632-5357
Dana-Farber Cancer Institute
Source:Eurekalert

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