Li-Fraumeni syndrome is a rare autosomal dominant hereditary disorder. It is named after Frederick Pei Li and Joseph F. Fraumeni, who originally described the syndrome. It greatly increases susceptibility to cancer. The syndrome is a mutation in the p53 tumor suppressor gene, which normally helps control cell growth.

Tumor types

The tumors that occur at an increased rate are:

• Breast cancer
• Ovarian cancer
• Osteosarcoma
• Liposarcoma
• Leukemia
• Astrocytoma
• Meningioma
• Gastric cancer
• Uterine cancer
• Pharyngeal cancer

Characteristics

What makes Li-Fraumeni Syndrome unusual is that

• several kinds of cancer are involved,
• cancer often strikes at a young age, and
• cancer often strikes several times throughout the life of somebody with the syndrome.

Diagnosis and treatment

Li-Fraumeni Syndrome is diagnosed if the following three criteria are met:

1. the patient has been diagnosed with a sarcoma at a young age (below 45),
2. a first-degree relative has been diagnosed with any cancer at a young age (below 45),
3. and another first-degree or a second-degree relative has been diagnosed with any cancer at a young age (below 45) or with a sarcoma at any age.

Genetic counseling and genetic testing are used to confirm that somebody has this gene mutation. Once such a person is identified, early and regular screenings for cancer are recommended for him or her. If caught early the cancers can often be successfully treated. Unfortunately, people with Li-Fraumeni are likely to develop another primary malignancy at a future time.

Pathophysiology

Because it has an autosomal dominant pattern, males and females are equally likely to inherit it and each child of a parent with the syndrome has a 50/50 chance of inheriting it.

Mutations in the P53 gene can be inherited from a parent, or they can arise newly either in the father's sperm or the mother's egg or during the early development of the embryo soon after conception.

Reference

• Li FP, Fraumeni Jr JF. Soft-tissue sarcomas, breast cancer and other neoplasms: a familial syndrome? Ann Intern Med 1969;71:747-52. PMID 5360287.

External links

• http://www.geneclinics.org/profiles/li-fraumeni/details.html
• http://www.emedicine.com/ped/topic1305.htm