General
Li–Fraumeni syndrome is a very rare autosomal dominant inherited disorder. It is named after the American physicians Frederick Pei Li and Joseph F. Fraumeni, who first described it.
Individuals with Li–Fraumeni syndrome have a markedly increased predisposition to developing cancer.
It most commonly occurs in association with sarcomas, breast carcinomas, leukemia, and adrenal tumors.
The cause of the syndrome is a mutation in the tumor suppressor gene p53, which normally acts to prevent uncontrolled growth of tumor cells; however, when mutated, it fails to inhibit tumor development. The mutation is hereditary, but it may also arise de novo.
Diagnosis
Li–Fraumeni syndrome is suspected when a tumor occurs in an individual at a young age (under 45 years). Genetic counseling and genetic testing are also utilized. Such individuals are then regularly monitored in order to detect any potential tumors at an early stage.
Treatment
As with other genetic disorders, Li–Fraumeni syndrome cannot be cured.
- cancer often occurs at a young age
- cancer often occurs multiple times during life (and in different organs)
- increased risk of developing any invasive cancer
- early onset of breast cancer
- occurrence of soft tissue sarcomas
- bone sarcoma
- brain tumors
- leukemia
- lymphomas
- adrenal cortex carcinoma
- melanoma
- Wilms tumor
To connect with other people with the same diagnosis in your area, please log in.
Login