Children’s Hospital Los Angeles Researcher Co-Authors Cancer Study Showing 79% Increased Survival Using Surveillance Proto

Researcher says study will undoubtedly change the practice of pediatric and adult oncology

LOS ANGELES--(BUSINESS WIRE)-- Mutation of the P53 gene has been associated with the Li-Fraumani Syndrome (LFS), which confers a heightened lifetime risk of developing cancer. Jonathan Finlay, MD, director of the Neural Tumor Program at Children’s Hospital Los Angeles, and his colleague, David Malkin, MD, director of the Cancer Genetics Program at The Hospital for Sick Kids, Toronto, were lead researchers on a study that followed families with this mutation. They determined that noninvasive testing and surveillance of children and adults with the P53 genetic mutation who developed cancer had a three-year overall survival rate of 100 percent due to early detection and treatment compared with 21 percent in the non-surveillance group. Overall, the study showed an increased survival rate of 79 percent, resulting from surveillance and early detection of cancer. Results will be published in Lancet Oncology (epub May 20, 2011).

Under normal conditions, the presence of the P53 gene prevents cancer formation and it is called a tumor suppressor gene. However, when the P53 gene is mutated, it no longer functions and cancer develops. Affected individuals with LFS tend to develop a number of different cancers at an early age – during childhood, adolescence and young adulthood.

In recent years there has been controversy as to the value, if any, of screening family members suspected of carrying this genetic mutation or to conduct screening for early signs of cancer. After following several families, the study demonstrates that individuals screened and found to have cancers that are then treated at an early stage have a higher rate of cure than those patients with P53 gene mutation who were not screened and whose disease was then diagnosed at a later stage – typically when they became symptomatic with cancer.

“The implications are clear and will undoubtedly change the practice of both pediatric and adult oncology,” said Dr. Finlay, who is also a professor of Pediatrics, Neurology and Neurosurgery at the Keck School of Medicine of the University of Southern California. Researchers recommend that individuals developing cancers at a young age and who fit the LFS pattern, especially if there is a suggestive family history, should undergo a simple blood test for the P53 mutation. If the mutation is found, immediate family members should also be screened. Children and adults found to have familial P53 mutations should undergo routine surveillance screening. “Identifying these cancers at an early stage appears to significantly improve their chances of being cured,” said Dr. Finlay.

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About Children’s Hospital Los Angeles

Children's Hospital Los Angeles has been named the best children’s hospital in California and among the best in the nation for clinical excellence with its selection to the prestigious US News & World Report Honor Roll. Children’s Hospital is home to The Saban Research Institute, one of the largest and most productive pediatric research facilities in the United States and is one of America's premier teaching hospitals, affiliated with the Keck School of Medicine of the University of Southern California since 1932.


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