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Li-Fraumeni
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27 januari 2012
Genetic counseling now recommended for children with sarcoma
If your son or daughter has been diagnosed with a type of sarcoma – a tumor in connective tissue like muscles or bones – there are many questions: Will my child make a full recovery? What are the immediate and long-term side effects of treatment?
Most parents don’t consider whether their child will face a second cancer later in life.
However, a link between sarcomas and Li-Fraumeni syndrome, a rare condition that raises a person’s risk of developing one or more cancers to as high as 85 percent, has led genetic specialists at Dana-Farber/Children’s Hospital Cancer Center (DF/CHCC) to recommend that all child sarcoma patients be offered genetic counseling for Li-Fraumeni syndrome.
Background Individuals with Li-Fraumeni syndrome have a high lifetime risk of developing cancer. We assessed the feasibility and potential clinical eff ect of a comprehensive surveillance protocol in asymptomatic TP53 mutation carriers in families with this syndrome. Methods We implemented a clinical surveillance protocol, using frequent biochemical and imaging studies, for asymptomatic TP53 mutation carriers on Jan 1, 2004, and did a prospective observational study of members of eight families with Li-Fraumeni syndrome who either chose to undergo surveillance or chose not to undergo surveillance. The primary outcome measure was detection of new cancers. The secondary outcome measure was overall survival Anita Villani, Uri Tabori, Joshua Schiff man, Adam Shlien, Joseph Beyene, Harriet Druker, Ana Novokmet, Jonathan Finlay, David Malkin Summary
TP53 is a gene that functions as a tumour suppressor. One of its jobs is to create the p53 protein, which acts to kill cells that have become cancerous. When the TP53 gene goes wrong, it means the body loses one of the key mechanisms it has for stopping damaged cells becoming cancers. Many people who develop cancer end up having the TP53 gene damaged in their tumours, but it functions normally in the rest of their body. However, there are some people who are born with a damaged TP53 gene, and for these people the risk of getting cancer is incredibly high. In many of these cases the damaged TP53 gene is inherited - it is passed down from parent to child.
