This is an inherited condition that increases the risk of developing a wide spectrum of tumors. Some forms of cancer these individuals commonly develop include acute leukemia, adrenocortical tumors, brain tumors, breast cancer, osteosarcomas and soft-tissue sarcomas. They are also prone to develop other types of cancer of the lung, stomach, pancreas, colon and thyroid. Although cancer can occur in any age of these individuals, it commonly develops in children or young adults. It is estimated that the lifetime risk of individuals with Li-Fraumeni syndrome to develop any form of cancer is around 90%. The exact prevalence of this syndrome is not known but the study suggests that around 300 individuals from 64 families have this disorder.
Causes
This syndrome develops as the result of genetic mutations in the genes CHEK2 and TP53. Li-Fraumeni syndrome commonly develops as the result of the mutation in TP53 gene which is responsible for the suppression of tumor that controls the growth and division of cells. This genetic mutation results in the uncontrolled division of cells and the development of tumors. In some cases, the genetic mutation is identified in CHEK2 gene which is also a tumor suppressor. This syndrome is inherited in an autosomal dominant pattern meaning one copy of the defective gene in each cell can increase the risk of developing cancer.
Diagnosis
The diagnosis of Li-Fraumeni syndrome may be suspected by assessing the individual’s medical and family history. A genetic counselor will discuss the family history of cancer, the types of cancer and their age at onset. A genetic testing may be recommended that can identify the mutation in the TP53 gene. The testing of this syndrome can also be done during pregnancy that identifies the genetic mutation with the amniocentesis during second trimester or chorionic villus sampling (CVS) during the first trimester. Individuals diagnosed with Le-Fraumeni syndrome require an annual physical examination including neurological and skin examinations. Additional screening measures include annual brain MRI, annual entire body MRI, abdominal ultrasound every 4 months, urinalysis and the complete blood counts.
Treatment
Individuals with this syndrome are predisposed to developing multiple different types of cancer over their lifetime. There is no treatment process to correct the genetic mutation. It is important that these individuals follow a healthy lifestyle by avoiding excess alcohol consumption, the use of tobacco and the use of protective measures when exposed to the sun. Children with the syndrome should have the regular screening so cancer can be detected early and treatment initiated. It is also important to monitor for signs that can be indications of cancer which can include unexplained weight loss, the appearance of new moles, the growth of new lumps, loss of appetite, headaches and changes in vision.
References
http://www.cancer.net/cancer-types/li-fraumeni-syndrome
http://www.lfsassociation.org/what-is-lfs/is-there-treatment-for-lfs/
http://www.chop.edu/conditions-diseases/li-fraumeni-syndrome
https://www.stjude.org/disease/li-fraumeni.html
https://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome#inheritance
