The Pheochromocytoma/Paraganglioma syndrome: an overview on mechanisms, diagnosis and management

ABSTRACT Pheochromocytomas/paragangliomas (PPGL) are rare, metastatic, and potentially fatal neuroendocrine tumors, often neglected because they present symptoms similar to other prevailing clinical conditions such panic syndrome, thyrotoxicosis, anxiety, hypoglycemia, etc., delaying diagnosis and treatment. The rate of diagnosis of PPGL has been increasing with the improvement in the measurement of catecholamine metabolites and the expanding availability of imaging procedures. Its essential genetic nature has been extensively investigated, comprising more than 20 genes currently related to PPGL and more new genes will probably be revealed. This overview will shed some light on the clinical, laboratory, topographical, genetic diagnosis, and management of PPGL.

摘要：嗜铬细胞瘤/副神经节瘤（Pheochromocytomas/paragangliomas，PPGL）是一类罕见、可发生转移且具有潜在致命性的神经内分泌肿瘤，常因症状与惊恐综合征、甲状腺毒症、焦虑症、低血糖症等常见临床病症相似而被忽视，进而延误诊断与治疗。随着儿茶酚胺代谢物检测技术的精进以及影像学检查手段的普及，PPGL的诊断率呈上升趋势。目前学界已对其核心遗传特性开展了广泛研究，目前已有超过20个基因被证实与PPGL发病相关，未来或可发现更多致病新基因。本综述将就PPGL的临床特征、实验室检查、定位诊断、遗传学诊断及诊疗管理进行概述。