Li-Fraumeni syndrome

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


Wikimedia Foundation. 2010.

Игры ⚽ Поможем написать реферат

Look at other dictionaries:

  • Li-Fraumeni syndrome — Li Fraumeni syndrome. См. синдром Ли Фраумени. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Li-Fraumeni syndrome (LFS) — This is an extraordinary cancer family syndrome. People with LFS have a tendency to develop a great diversity of tumors. LFS was first discovered in 1969. By reviewing the medical records and death certificates of children with a relatively rare… …   Medical dictionary

  • Li-Fraumeni syndrome — Li Frau·me·ni syndrome lē frau̇ mē nē n a rare familial syndrome that is characterized esp. by a high risk of developing early breast cancer and sarcomas of soft tissue Li Frederick P. (b 1940) American epidemiologist. Li held the concurrent… …   Medical dictionary

  • Syndrome de li-fraumeni — Autre nom Syndrome SBLA Référence MIM …   Wikipédia en Français

  • Li-Fraumeni syndrome — A rare, inherited predisposition to multiple cancers, caused by an alteration in the p53 tumor suppressor gene …   English dictionary of cancer terms

  • Syndrome, Li-Fraumeni (LFS) — This is an extraordinary cancer family syndrome. People with LFS have a tendency to develop a great diversity of tumors. LFS was first discovered in 1969. By reviewing the medical records and death certificates of children with a relatively rare… …   Medical dictionary

  • Syndrome de Li-Fraumeni — Référence MIM 151623 Transmission Dominant autosomique Chromosome 17p13.1 22q12.1 Gène TP53 CHEK2 Empreinte parentale …   Wikipédia en Français

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Fraumeni — Joseph F., Jr., epidemiologist, *1933. See Li F. cancer syndrome …   Medical dictionary

  • Li-Fraumeni-Syndrom — Das Li Fraumeni Syndrom ist eine autosomal dominant vererbbare Erkrankung, die mit multiplen Tumoren einhergeht, welche oft im frühen Lebensalter auftreten.[1] Die Krankheit ist sehr selten. Inhaltsverzeichnis 1 Krankheitsentstehung 2 Diagnose …   Deutsch Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”