Syndrome, Li-Fraumeni (LFS)

This is an extraordinary cancer family syndrome.

People with LFS have a tendency to develop a great diversity of tumors.</P> LFS was first discovered in 1969. By reviewing the medical records and death certificates of children with a relatively rare tumor, a soft tissue sarcoma called rhabdomyosarcoma, Drs.

Fred Li and Joe Fraumeni at the National Cancer Institute identified several families in which siblings or cousins also had a childhood sarcoma.

These same families had exceptional histories of breast cancer and other tumors and proved to have LFS.</P> The spectrum of cancers in LFS has been shown to include breast cancer, soft tissue sarcomas, brain tumors, a bone tumor called osteosarcoma, leukemia, and a tumor of the adrenal gland (adrenocortical carcinoma): an incredible range of malignancies.</P> The Li-Fraumeni syndrome has been found to be due to a mutation (a heritable change) in a gene that normally serves to curb cancer: the p53 tumor-suppressor gene.

LFS has been of considerable importance to the understanding of the genetics and molecular biology of cancer.