What is LFS?
Li-Fraumeni Syndrome is a rare inherited genetic cancer disorder that greatly increases one’s risk of developing cancer during their lifetime. Sometimes people with LFS develop multiple cancers and multiple tumors often in childhood or as young adults. In 1969 Dr. Joseph Fraumeni noticed groups of families with a higher number of childhood cancers and adult early onset cancers. With the help of Dr. Frederick Li, they found increased numbers of genetic sarcomas, genetic leukemias, genetic adrenal cancer, and genetic breast cancer in these families than would normally be expected. This “familial cancer syndrome” ultimately became known as Li-Fraumeni Syndrome. In 1990 researchers found that LFS is most often caused by a gene mutation in the p53 tumor suppressor gene. When this p53 gene is mutated, it doesn’t work properly to stop cell growth and cancer tumors develop.
Cancers associated with LFS include adrenocortical cancer, brain tumors, soft tissue sarcomas, osteosarcomas, rhabdomyosarcoma, breast cancer, leukemia, lymphoma and glioblastoma. We now know that numerous other cancers have been seen in LFS families, often occurring at younger ages than expected. Due to the complexity of this disorder, it is recommended that patients with LFS seek input from providers experienced in caring for patients with this syndrome.