Medical guidelines for Li –Fraumeni syndrome 2019, version 1.1

AbstractLi –Fraumeni syndrome (LFS) is a hereditary tumor that exhibits autosomal dominant inheritance. LFS develops in individuals with a pathogenic germline variant of the cancer-suppressor gene,TP53 (individuals withTP53 pathogenic variant). The number of individuals withTP53 pathogenic variant among the general population is said to be 1 in 500 to 20,000. Meanwhile, it is found in 1.6% (median value, range of 0 –6.7%) of patients with pediatric cancer and 0.2% of adult patients with cancer. LFS is diagnosed by the presence of germlineTP53 pathogenic variants. However, patients can still be diagnosed with LFS even in the absence of aTP53 pathogenic variant if the familial history of cancers fit the classic LFS diagnostic criteria. It is recommended thatTP53 genetic testing be promptly performed if LFS is suspected. Chompret criteria are widely used for theTP53 genetic test. However, as there are a certain number of cases of LFS that do not fit the criteria, if LFS is suspected,TP53 genetic testing should be performed regardless of the criteria. The probability of individuals withTP53 pathogenic variant developing cancer in their lifetime (penetrance) is 75% for men and almost 100% for women. The LFS core tumors (breast cancer, osteosarcoma, soft tissue sarcoma, brain tumor, and adrenocortical cancer) constitute the majority of cases; however, various types of cancers, such as hematological malignancy, epithelial cancer, and pediatric cancers, such as neuroblastoma, can...
Source: International Journal of Clinical Oncology - Category: Cancer & Oncology Source Type: research