FRIDAY, March 21, 2008 (HealthDay News) -- Full-body PET/CT scans identified unsuspected, treatable tumors in three of 15 patients with a rare genetic condition that greatly increases the risk of cancer, say researchers at the Dana-Farber Cancer Institute in Boston.
In most people with the condition, called Li-Fraumeni syndrome (LFS), a mutation in the TP53 tumor suppressor gene makes them highly susceptible to a variety of cancers from an early age. It's estimated that people with LFS have a 50 percent chance of developing cancer by age 30, and a 90 percent chance by age 60. A person with LFS who has survived one cancer is at high risk for developing another cancer. Currently, there are no recommended cancer screening tests for LFS patients.
The Dana-Farber team said their results suggest that periodic PET/CT scans, together with physical exams, may help detect tumors at a curable stage. However, larger studies are needed to determine whether such screening leads to increased survival and whether the risks outweigh the benefits, the researchers added.
"We need to be cautious, and we shouldn't say that every patient with the syndrome should have a PET/CT examination. But the study showed some interesting findings that justify a larger, international study in these patients," Dr. Annick Van Den Abbeele, clinical director of radiology and director of nuclear medicine/positron emission tomography, said in a prepared statement.
The study, published in the March 19 issue of the Journal of the American Medical Association, included 15 healthy adult members of families with a history of LFS. None of the participants had been diagnosed with cancer in the previous five years.
The PET/CT scans detected thyroid cancer in a 31-year-old breast cancer survivor and a 48-year-old survivor of breast cancer and a childhood scarcoma. The scans also found a tumor at the junction of the stomach and esophagus in a 36-year-old man with no history of cancer. All three patients received potentially curative treatments.
"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," study senior author Dr. Judy Garber, director of Dana-Farber's Cancer Risk and Prevention Clinic, said in a prepared statement.
More information
The U.S. National Library of Medicine has more about Li-Fraumeni syndrome.
