Home > D. General pathology > Genetic and developmental anomalies > Li-Fraumeni syndrome
Li-Fraumeni syndrome
Thursday 11 November 2004
Autosomal dominant transmission.
Synopsis
Predispsotion to tumors (unusually early age of tumor onset
frequent multiple primary tumors)
- soft tissue sarcomas
- breast carcinomas
- brain tumors
- osteosarcoma
- embryonal rhabdomyosarcoma
- leukemias
- adrenocortical carcinoma
- lymphomas
- pulmonary adenocarcinoma
- melanoma
- gonadal germ cell tumors
- prostate carcinomas
- pancreatic carcinomas
Impaired lymphocyte transformation with phytohemagglutinin
Polyclonal IgM elevation
Etiology (3 known loci)
Locus 9p21
Locus TP53 at 17p13.1: germline mutations in the TP53 gene coding for protein p53
Locus CHEK2 at 22q12.1: germline mutations in the CHEK2 gene (MIM.604373). CHEK2 is a protein kinase activated in response to DNA damage, is involved in cell cycle arrest.