Li-Fraumeni syndrome

Li-Fraumeni Syndrome (OMIM: 151623) is a hereditary tumor syndrome associated with a generally increased predisposition to cancer (without clear organ specificity).

P53 pathways

Etiology[edit | edit source]

The cause a germline mutation tumor supressor gene TP53 (17p13.1);
A similar clinical picture (so-called Li-Fraumeni syndrome 2 OMIM: 609265) is caused by a mutation in the CHEK2 gene (22q12.1; OMIM: 604373 ), otherwise also associated with hereditary breast cancer.

Clinical image[edit | edit source]

The syndrome is characterized by a highly variable phenotype:
- osteosarcomas and soft tissue sarcomas
- breast cancer
- adrenal medullary adenocarcinoma
- CNS tumors
- leukemia
It is usually a very early onset of cancer

Occurrence[edit | edit source]

It is characterized by a very frequent occurrence of tumors in the family ("tumor families"). Incidence in the world is 1–9/100,000.

History[edit | edit source]

The syndrome was described by Frederick Pei Li and Joseph F. Fraumeni jr. in 1969. ^[1]

Links[edit | edit source]

Source[edit | edit source]

ŠÍPEK, Antonín. Genetically determined neoplastic diseases [online]. The last revision 8. 6. 2007, [cit. 17. 4. 2010]. <http://www.genetika-biologie.cz/hereditarni-nadorove-syndromy>.

↑ LI, F P – FRAUMENI, J F. Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?. Ann Intern Med [online]. 1969, vol. 71, p. 747-52, Available from <https://www.ncbi.nlm.nih.gov/pubmed/5360287>. ISSN 0003-4819.

Bibliography[edit | edit source]

KLEIBL, Zdeněk – NOVOTNÝ, Jan. Hereditary cancer syndroms. 1. edition. Prague : Triton, 2003. 31 pp. ISBN 80-7254-357-1.

[1] LI, F P – FRAUMENI, J F. Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?. Ann Intern Med [online]. 1969, vol. 71, p. 747-52, Available from <https://www.ncbi.nlm.nih.gov/pubmed/5360287>. ISSN 0003-4819.

[1]