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).

Etiology

 * The cause a germline mutation in the tumor suppressor 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

 * 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

 * 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
The syndrome was described by Frederick Pei Li and Joseph F. Fraumeni jr. In 1969.