Original Publication Date: 15 August, 2016
Publication / Source: Future Oncology
Authors: Milena Guidi, Laura Giunti, Maurizio Lucchesi et al
Li-Fraumeni syndrome (LFS) is a rare family cancer syndrome, characterized by an autosomal dominant transmission that increases an individual’s risk of developing early synchronous and metachronous primary tumors. Classic LFS is associated with the development of sarcomas, diagnosed before 45 years of age with a first-degree relative with cancer before 45 years of age, and another close (first- or second-degree relative) with any cancer diagnosed less than 45 years of age or with sarcoma at any age. The typical tumors include breast carcinoma, soft tissue sarcomas, osteosarcoma, CNS tumors, adrenocortical carcinoma (ACC), lung cancer and leukemias. Classic LFS has an approximate frequency of 70% compared with whole cancer-predisposition syndromes [1–4].
According to the Chompret criteria, around 25% of families show a Li-Fraumeni-like syndrome (LFL) which includes the following: high-risk sarcoma, brain tumor, breast cancer and ACC before 36 years of age and cancer under the age 46 years in first- or second-degree relatives or multiple primary tumors, including two of the previous tumors or ACC at any age. Almost 60% of LFS patients who present primary tumors in pediatric age will develop a secondary malignancy in the following 30 years [1,3,5].