Adjuvant Radiotherapy and Breast Cancer in Patients with Li-Fraumeni Syndrome: A Critical Review.

Background/

Objectives: Li-Fraumeni syndrome (LFS) is a disease caused by a germline mutation of the tp53 gene that predisposes the individual to various malignancies, including breast cancer. Its impact on treatment modalities in oncology remains poorly studied. In this critical review, we aimed to retrieve and analyze available data concerning adjuvant radiotherapy in early breast cancer for LFS patients, as well as the current guidelines.

Methods: We reviewed articles with LFS patient cohorts that reported secondary malignancy rates after breast adjuvant radiotherapy. Rates of recurrence, when available, were also included. Furthermore, we discussed contemporary radiobiological evidence and guidelines on the subject.

Results: Six retrospective studies were reviewed. Five reported much higher rates of secondary malignancies compared to the general population. Additionally, there was no clear trend toward increased locoregional control after adjuvant radiotherapy. Radiobiological data suggest increased radioresistance and radiosensitivity within p53-mutated cells. Guidelines recommend avoiding radiotherapy in LFS patients when possible.

Conclusions: Currently, there is no standard treatment or cure for LFS or a germline variant of the TP53 gene. With few exceptions, cancers in people with LFS are treated the same way as cancers in other patients, but research continues into the best way to manage cancers involved in LFS.