|
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:
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:
- the patient has been diagnosed with a sarcoma at a young age (below 45),
- a first-degree relative has been diagnosed with any cancer at a young age (below 45),
- 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
|
