Li-Fraumeni syndrome

Abstract

The autosomal dominant inherited Li-Fraumeni syndrome (LFS) increases the lifetime risk of developing amalignancy to almost 100%. Although breast cancer, central nervous system (CNS) tumors and sarcomas are particularly common, tumors can ultimately occur almost anywhere in the body. As causal therapy is not available, the primary focus for improving the prognosis is early cancer detection. To this end, current cancer surveillance recommendations include aseries of examinations including regular imaging beginning at birth. Due to the wide range of tumor entities that can occur in individuals affected by LFS, asensitive detection requires imaging of various tissue contrasts; however, because life-long screening is potentially initiated at ayoung age, this requirement for comprehensiveness must be balanced against the presumed high psychological burden associated with frequent or invasive examinations. As radiation exposure may lead to an increased (secondary) tumor risk, computed tomography (CT) and X‑ray examinations should be avoided as far as possible. Because annual whole-body magnetic resonance imaging (MRI) has no radiation exposure and yet a high sensitivity for many tumors, it forms the basis of the recommended imaging; however, due to the rarity of the syndrome, expertise is sometimes lacking and whole-body MRI examinations are performed heterogeneously and sometimes with limited diagnostic quality. Optimization and standardization of MRI protocols should therefore be pursued. In addition, the need for an intravenously administered contrast agent has not been conclusively clarified despite its high relevance.