Pediatric adrenocortical tumors: diagnosis, management and advancements in the understanding of the genetic basis and therapeutic implications

Adrenocortical tumors (ACTs) may be sporadic or related to inherited genetic syndromes. Uncovering the molecular defects underlying these genetic syndromes has revealed key signaling pathways involved in adrenocortical tumorigenesis. Although the understanding of ACT biology has improved, to date, very few potential prognostic molecular markers of childhood ACTs have been identified. In this review, we summarize the current knowledge of the epidemiology, clinical presentation, diagnosis, prognosis and treatment options for pediatric patients with ACTs. A review of the genetic basis of adrenocortical tumorigenesis is presented, focusing on the main molecular abnormalities involved in the tumorigenic process and potential novel therapy targets that have been generated, or are being generated, with the discovery of these molecular defects.