The Online Encyclopedia and Dictionary






Li-Fraumeni syndrome

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:


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.


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.


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

External links

  • OMIM 151623

Last updated: 04-29-2005 02:19:08
Last updated: 05-01-2005 03:40:35