New Perspectives on Pheochromocytoma and Paraganglioma: Toward a Molecular Classification.

TLDR: The current and future PPGL classifications are reviewed, with a focus on hereditary syndromes, and the current strengths and shortcomings of precision medicine are discussed.

Abstract: A molecular biology–based taxonomy has been proposed for pheochromocytoma and paraganglioma (PPGL). Data from the Cancer Genome Atlas revealed clinically relevant prognostic and predictive biomarkers and stratified PPGLs into three main clusters. Each subgroup has a distinct molecular–biochemical–imaging signature. Concurrently, new methods for biochemical analysis, functional imaging, and medical therapies have also become available. The research community now strives to match the cluster biomarkers with the best intervention. The concept of precision medicine has been long awaited and holds great promise for improved care. Here, we review the current and future PPGL classifications, with a focus on hereditary syndromes. We discuss the current strengths and shortcomings of precision medicine and suggest a condensed manual for diagnosis and treatment of both adult and pediatric patients with PPGL. Finally, we consider the future direction of this field, with a particular focus on how advanced molecular characterization of PPGL can improve a patient’s outcome, including cures and, ultimately, disease prevention.