For decades, those with Li Fraumeni Syndrome have struggled with knowing they are at a higher risk for cancer. Many of these LFSers want to DO something, not just wait around for cancer to catch up to them. For years we heard that screening is the best prevention and chance to beat cancer, we hear that catching it early leads to the best chance for a cure. The problem is- where to start looking and what is the best way to screen for the variety of cancers that pose threats to this group? LFS cancers could occur in almost any tissue of the body and over a wide spectrum of ages. The “core” LFS cancers are brain, breast, sarcoma, and adrenocortical carcinoma. Unfortunately, screening for these cancers alone can be pretty intensive and would require several MRIs, ultrasounds, and bloodwork. But those who have seen loved ones battle cancer caught at late stages feel this is a small price to pay to be proactive in their healthcare. Many LFS patients seek the help of certified Genetic Counselors to help them tailor a screening regimen to their personal medical histories while taking into consideration the emotional, physical, and financial impact of the tests. Others rely on their PCM or oncologist to guide their screening. Many find difficulties in paying for scans or getting insurance to cover the screening. These are all important things to consider when thinking about undertaking a screening routine for LFS.
While there is still no “officially” endorsed or recommended screening regimen for people with LFS- Dr. David Malkin and a team of dedicated researchers and clinicians from Sick Kids Hospital in Toronto made great strides forward in 2011 by publishing results of an approach for screening children at high risk for cancer. Dr. Malkin and his team followed a group of children for 5 years, some participated in the screening program and some did not. The approach came to be known as the Toronto Protocol. Of those who chose not to be screened- only 21% were still alive after 5 years. In the group that followed the Toronto Protocol- 100% were still alive after 5 years. These results earned the team the #2 Ranking of the Canadian Cancer Society’s Top 10 Breakthroughs of 2011 and the Toronto Protocol is used by many institutions around the world to screen families with LFS.