Pheochromocytoma in MEN2

Abstract

Pheochromocytomas (PCs) are rare neuroendocrine tumors found in 20-50% of MEN2 patients. MEN2-related PCs are more often bilateral, identified at a younger age and have a low metastatic potential. They secrete epinephrine as the predominant catecholamine, along with its metabolite metanephrine, and lesser amounts of norepinephrine and normetanephrine. The advent of molecular diagnostic tools has enhanced the identification and stratification of these tumors, revealing a strong genotype-phenotype correlation which is crucial for screening and managing patients. Evaluation involves a combination of structural (CT/MRI) and functional imaging. MIBG remains helpful for PC assessment but novel PET ligands (¹⁸F-DOPA, ⁶⁸Ga-DOTATATE, ¹⁸F-FDG) aid in the detection of extra-adrenal paragangliomas, recurrence, and metastatic disease. The treatment paradigm has shifted toward personalized medicine, incorporating genetic insights to tailor interventions, particularly surgical approaches and novel therapeutics such as radiolabeling of somatostatin analogs with lutetium and tyrosine kinase inhibitors.