'Paraganglioma and pheochromocytoma: a review of current guidelines, new diagnostic and therapeutic approaches'.
This review summarizes recent PPGL guidance, emphasizing genotype-tailored care, specialized pediatric protocols, revised histopathology, advanced targeted therapies, and predictive tools.
Open original publication →What the AI sees
This review summarizes recent PPGL guidance, emphasizing genotype-tailored care, specialized pediatric protocols, revised histopathology, advanced targeted therapies, and predictive tools.
Research significance
The supplied record supports genotype-first management as an organizing clinical strategy for PPGL; it is plausible, but not demonstrated here, that matching surveillance, surgery, or targeted therapy to hereditary genotype could improve outcomes or reduce unnecessary treatment in pediatric patients.
Source 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.