Li-Fraumeni Syndrome

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Li-Fraumeni Syndrome is a rare inherited hereditary cancer disorder that greatly increases one’s risk of developing cancer during their lifetime. Sometimes, people with LFS develop multiple tumors or multiple cancers, 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 sarcomas, leukemias, adrenal cancer, and 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 tumors develop. LFS diagnosis can also result from CHK2 mutations.



Cancers associated with LFS include:
Adrenocortical cancer
Brain tumors
Soft tissue sarcomas
Osteosarcomas
Genetic breast cancer
Genetic leukemia
Lymphoma
Glioblastoma
Rhabdomyosarcoma
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 families with LFS undergo Li-Fraumeni genetic testing. Those with a family history of cancer, multiple cancers or childhood cancers, and patients with LFS should seek input from providers experienced in caring for patients with Li-Fraumeni Syndrome.

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