嗜铬细胞瘤(CGL)是指肾上腺嗜铬细胞(也称为嗜铬细胞瘤)或来源于外周神经环节细胞的高度遗传性肿瘤，通常由单个致病变异驱动，这些致病变异互相排斥并涉及多种细胞过程，包括对低氧的反应、MAPK/ERK信号和WNT信号。驱动基因突变的发现导致了积极的临床监测，对家族性PGL的预后有影响。突变谱持续增长，揭示了酶原性的独特机制，这些机制有助于了解肿瘤生物学，提供了针对性治疗的理由。本文回顾了PGL的遗传和分子发病学的最新进展，并讨论了新的疾病模型和正在进行的临床试验的新前景，这些进展在2022年10月在布拉格举办的国际嗜铬细胞瘤和嗜铬细胞瘤研讨会(ISP2022)上呈现。

Paragangliomas (PGL) of the adrenal (also known as pheochromocytomas) or extra-adrenal neural crest-derived cells are highly heritable tumors, usually driven by single pathogenic variants that occur mutually exclusively in genes involved in multiple cellular processes, including the response to hypoxia, MAPK/ERK signaling and WNT signaling. Discovery of driver mutations has led to active clinical surveillance with outcome implications in familial PGL. The spectrum of mutations continues to grow and reveal unique mechanisms of tumorigenesis that inform tumor biology and provide the rationale for targeted therapy. Here we review recent progress in the genetics and molecular pathogenesis of PGLs and discuss new prospects for advancing research with new disease models and ongoing clinical trials presented at the recent International Symposium of Pheochromocytomas and Paragangliomas (ISP2022) held in October 2022 in Prague.