Gild Matti L, Do Kimchi, Tsang Venessa H M, Tacon Lyndal J, Clifton-Bligh Roderick J, Robinson Bruce G
Department of Endocrinology and Diabetes, Royal North Shore Hospital, Sydney, Australia.
Faculty of Medicine and Health, University of Sydney, Camperdown, NSW, Australia.
Recent Results Cancer Res. 2025;223:211-235. doi: 10.1007/978-3-031-80396-3_8.
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 (F-DOPA, Ga-DOTATATE, F-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.
嗜铬细胞瘤（PCs）是罕见的神经内分泌肿瘤，在20%至50%的MEN2患者中发现。与MEN2相关的PCs更常为双侧性，在较年轻时被发现，且转移潜能较低。它们主要分泌肾上腺素及其代谢产物甲氧基肾上腺素，同时分泌少量去甲肾上腺素和去甲氧基肾上腺素。分子诊断工具的出现增强了对这些肿瘤的识别和分层，揭示了强大的基因型-表型相关性，这对患者的筛查和管理至关重要。评估包括结构成像（CT/MRI）和功能成像相结合。MIBG对PC评估仍有帮助，但新型PET配体（F-DOPA、Ga-DOTATATE、F-FDG）有助于检测肾上腺外副神经节瘤、复发和转移性疾病。治疗模式已转向个性化医疗，纳入基因见解以定制干预措施，特别是手术方法和新型治疗方法，如用镥对生长抑素类似物进行放射性标记和酪氨酸激酶抑制剂。
