Li-Fraumeni syndrome

Infobox_Disease
Name = Li-Fraumeni syndrome


Caption =
DiseasesDB = 7450
ICD10 =
ICD9 = ICD9|758.3
ICDO =
OMIM = 151623
MedlinePlus =
eMedicineSubj = ped
eMedicineTopic = 1305
MeshID = D016864

Li-Fraumeni syndrome is a rare autosomal dominant hereditary disorder. It is named after Frederick Pei Li and Joseph F. Fraumeni, Jr., the American physicians who first recognized and described the syndrome. Li-Fraumeni syndrome increases greatly the susceptibility to cancer. The syndrome is linked to germline mutations of the p53 tumor suppressor gene, which normally helps control cell growth. Mutations can be inherited or can arise de novo early in embryogenesis or in one of the parent's germ cells.

Persons with LFS are at risk for a wide range of malignancies, with particularly high occurrences of breast cancer, brain tumors, acute leukemia, soft tissue sarcomas, bone sarcomas, and adrenal cortical carcinoma.

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 an affected person.

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.

References

* 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://ghr.nlm.nih.gov/ghr/disease/lifraumenisyndrome Li-Fraumeni syndrome] , in the National Library of Medicine Genetics Home Reference (an introduction to the disease)
* [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&partid=1311#li-fraumeni Li-Fraumeni Syndrome] by Katherine A Schneider and Frederick Li, in GeneReviews, a section of GeneTests, published online by the University of Washington with funds from the National Institutes of Health
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151623 Li-Fraumeni syndrome; LFS1] , entry in Online Mendelian Inheritance in Man (OMIM), published by Johns Hopkins University and the National Institutes of Health