Li-Fraumeni syndrome
Li-Fraumeni syndrome (pronunciation: lee-frow-MAY-nee sin-drome) is a rare, inherited genetic disorder that greatly increases the risk of developing several types of cancer, particularly in young adults and children.
Etymology
The syndrome is named after two American physicians, Dr. Frederick Li and Dr. Joseph Fraumeni, who first identified the syndrome in 1969.
Definition
Li-Fraumeni syndrome is characterized by the presence of certain cancers within a family. The most common cancers associated with Li-Fraumeni syndrome include breast cancer, osteosarcoma, soft tissue sarcoma, brain tumors, leukemia, and adrenocortical carcinoma.
Causes
Li-Fraumeni syndrome is caused by mutations in the TP53 gene, which produces a protein that helps control cell growth. This mutation can be inherited from a parent or can occur spontaneously during a person's lifetime.
Symptoms
Symptoms of Li-Fraumeni syndrome vary widely, depending on the type of cancer. However, a common sign is the development of one or more types of cancer at a young age.
Diagnosis
Diagnosis of Li-Fraumeni syndrome is based on family history, the presence of characteristic cancers, and genetic testing to identify mutations in the TP53 gene.
Treatment
Treatment for Li-Fraumeni syndrome involves managing the cancers that develop. This may include surgery, radiation therapy, chemotherapy, or targeted therapies.
Prognosis
The prognosis for individuals with Li-Fraumeni syndrome varies, depending on the type and stage of cancer. Early detection and treatment can improve the prognosis.
See also
External links
- Medical encyclopedia article on Li-Fraumeni syndrome
- Wikipedia's article - Li-Fraumeni syndrome
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