Li-Fraumeni syndrome: a role for surgical pathologists?

Li-Fraumeni syndrome is a rare familial predisposition to a heterogeneous array of tumours, which is associated with TP53 mutation. The purpose of this review is to discuss the clinical, molecular and histopathologic aspects of Li-Fraumeni syndrome relevant to the surgical pathologist. Several tumours that commonly arise in the context of germ-line TP53 mutations, and challenges related to their histopathologic interpretation, are highlighted. On this basis it is demonstrated that, despite being a tumour syndrome, very little is known about the histopathologic aspects of tumours arising with germ-line TP53 mutation. With the advent of organized databases identifying and sharing details on these rare patients comes a renewed need to rigorously study tumour pathology. It is possible that this in turn will translate into better care for patients and their families through earlier identification, as well as potentially limiting the adverse effects of treatments, such as radiotherapy.