‘Paraganglioma and pheochromocytoma: a review of current guidelines, new diagnostic and therapeutic approaches’

Abstract

Paragangliomas and pheochromocytomas, recently reclassified to unify the disease as extra-adrenal and intra-adrenal paragangliomas, are rare neuroendocrine tumours. These tumours have an exceptionally strong hereditary component, with up to 40% of cases being driven by germline mutations in susceptibility genes and therefore a cornerstone of modern PPGL care is the genotype-first approach, which heavily dictates initial assessment, surgical strategy, and follow-up. In recent years, the clinical landscape has evolved rapidly, leading to the publication of more than ten new consensus statements since 2022 alone. This review article highlights some of these major paradigm shifts including i) a transition towards genotype-tailored clinical management, ii) specialised paediatric diagnostic and management protocols, iii) updated histopathological criteria, iv) the use of advanced targeted therapeutics, and v) the integration of novel predictive tools.