Adrenocortical carcinoma (ACC) is a rare endocrine cancer with a poor prognosis. Roughly 1015% of all ACCs arise in patients with a predisposition to cancer development due to a germline mutation. Pediatric ACC is a well-described core malignancy of the Li Fraumeni syndrome tumour spectrum. More recently TP53 mutations have also been found in adult ACC patients. In addition recent advances in clinical and molecular genetics have identified additional familial cancer syndromes, such as Lynch syndrome and Carney Complex, contributing to ACC development in adult patients.
Familial cancer syndromes can often be identified by obtaining a detailed family and personal history, and finding clues on physical exam. Identifying an underlying germline mutation in a patient with the diagnosis of ACC may impact treatment decisions, and allows for individual strategies for preventive surveillance regarding other associated tumours and for further family cascade screening. Due to the significant prevalence of familial cancer syndromes amongst patients with ACC, we recommend considering genetic counselling and a genetic work-up for all patients with ACC.