Li fraumeni syndrome

Li-Fraumeni syndrome (LFS) is a rare, autosomal dominant, hereditary disorder that predisposes carriers to early-onset cancers. The syndrome was first described by American physicians Frederick Pei Li and Joseph F. Fraumeni Jr. in 1969.

Genetics

Li-Fraumeni syndrome is caused by mutations in the TP53 gene, which provides instructions for making a protein called tumor protein p53. This protein acts as a tumor suppressor, which means it regulates cell division by keeping cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in the TP53 gene disrupt the function of tumor protein p53, impairing its ability to control cell growth and division. This lack of regulation allows cells to divide in an uncontrolled manner and form tumors.

Clinical Features

Individuals with Li-Fraumeni syndrome are at an increased risk of developing multiple types of cancer, often at a young age. These cancers include breast cancer, osteosarcoma, soft tissue sarcoma, brain tumors, adrenocortical carcinoma, and leukemia. The risk of cancer is significantly higher in individuals with LFS than in the general population, and the risk increases with age.

Diagnosis

Diagnosis of Li-Fraumeni syndrome is based on clinical criteria, known as the Chompret criteria, and genetic testing. The Chompret criteria include the presence of a TP53 mutation, a family history of cancer, and the occurrence of multiple primary cancers. Genetic testing can confirm the presence of a TP53 mutation.

Management and Treatment

Management of Li-Fraumeni syndrome involves regular surveillance for early detection of cancer. This may include physical examinations, blood tests, imaging studies, and other diagnostic tests. Treatment depends on the type and stage of cancer, but may include surgery, radiation therapy, chemotherapy, or targeted therapy.

Prognosis

The prognosis for individuals with Li-Fraumeni syndrome varies depending on the type and stage of cancer. Early detection and treatment can improve the prognosis.

See Also

• Cancer genetics
• Hereditary cancer-predisposing syndrome
• TP53
• Tumor suppressor

Li fraumeni syndrome Resources
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