Li Fraumeni Syndrome

Li Fraumeni syndrome (LFS) was described in 1969, initially organized through clinical observations followed by epidemiological studies. Corresponds to a rare syndrome, autosomal dominant negative characterized by inherited mutations that occur in the germline, especially p53 (approximately 70% of cases) and a clinical phenotype of multiple primary neoplasms. Thus, it is characterized by a predisposition to cancer, and those with 50 years have a probability of twenty-five times more likely to develop various types of malignant tumors, compared with the general population. The LFS is related to a high mortality rate as a result of different locations of neoplasms and systemic consequences arising.

Molecular diagnosis and genetic counseling Tracking Since LFS is rare that no epidemiological achieves a well-defined population and shows no clinical manifestations predictable, nor a specific treatment, methods of screening are not yet routine in human genetics. Early detection of germline mutation of TP53 in tumor patients can be offered for both children as well as adults, in a context of psychosocial support to confirm the molecular basis for LFS. This will at least offer the patient an ongoing clinical review and sometimes future diagnosing cancers at an early stage. However, genetic counseling is still one of the major difficulties in the LFS. After all, phenotypic diversity is extensive, ranging from mild clinical implications neoplasms sarcomas in children and even brain tumors, making planning for the future and assessing prognosis. Furthermore, inheriting a mutation of TP53 is no guarantee that the cancer develops, as this will arise by the accumulation of somatic mutations during life. Thus, much more must be known about the pathogenesis of the disease so that you can make a effective counseling for families with molecular predisposition to cancer. Despite treatment advances in molecular methods to detect mutation has not yet developed an effective method of treatment of this syndrome. However, early detection of the mutation may provide important information and guidance for future interventions. Before starting a specific treatment, all patients should have their diagnosis of cancer confirmed by histopathology tissue. Currently, there are the following alternatives for the treatment of cancer: surgery, radiation, chemotherapy, hormone therapy, immunotherapy and biotherapy. The decision of the best treatment depends on the location, type, extent, and number of tumors, and especially the patient's clinical condition. The main goal of therapy is still providing relief of symptoms, with a better quality of life. The germline gene therapy in humans has not been used by ethical concepts and the limitations of technology for manipulation of germline cells.