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嗜铬细胞瘤/副神经节瘤(pheochromocytomes and paragangliomas，PCC/PGL)是分别产生于肾上腺髓质的嗜铬细胞和自主性副神经节的、少见的神经内分泌腺肿瘤，部分PCC/PGL由基因的突变引起。PCC/PGL具有广泛的遗传异质性，有20多个易感基因的突变可引起PCC/PGL。易感基因可分为两类，第一类基因，如n SDHx(succinate dehydrogenase，SDH)、n VHL、n PHD2、n FH、n IDH、n HIF2A和n MDH2通过“伪缺氧”信号转导通路使嗜铬细胞发生转化，第二类基因，如n RET、n NF1、n KIF1Bβ、n MAX和n TMEM127等，则通过激酶信号转导通路使嗜铬细胞发生转化。本文综述了n SDHx(包括n SDHD、n SDHC、n SDHB、n SDHA、n SDHAF1和n SDHAF2基因)引起的PCC/PGL的基因型与临床表现型的关系、遗传异质性以及其在临床应用方面的研究进展，并对目前尚未完全揭晓的PCC/PGL发病的分子机制进行了简单的介绍，以期对研究PCC/PGL的发病机制、传递规律及其诊断、病情恶化风险评估和发现潜在的治疗手段有所启示，也可以为临床遗传咨询的改进提供理论参考。n “,”Pheochromocytomas and paragangliomas(PCC/PGL)are rare neuroendocrine tumors arising from the chromaffin cells of adrenal medulla and the neuroendocrine glands of autonomic paraganglion.These tumors can be of sporadic or hereditary origin, mutations in more than twenty susceptibility genes have implicated in the development of PCC/PGL, the disease-causing genes of PCC/PGL are mainly classified into two major groups.Cluster 1 genes are involved with the pseudo-hypoxic pathway and consisted of n SDHx, n VHL, n PHD2, n FH, n IDH, n HIF2A and n MDH2.Cluster 2 genes are associated with abnormal activation of kinase signalling pathways and include n RET, n NF1, KIF1Bβ, n MAX and n TMEM127.This review addresses the research progress of the genotype-phenotype relationship for these hereditary syndromes caused by mutations of n SDHx in cluster 1 genes, with an emphasis on the genetic heterogeneities of n SDHx(n SDHD, SDHC, SDHB, SDHA, SDHAF1 and n SDHAF2), including the ongoing studies to uncover the molecular basis of tumorigenesis of PCC/PGL.The molecular research on pathophysiology of PCC/PGL is important for diagnosis, and identifying risk of malignancy or recurrent disease, and it is also helpful to optimize treatments and surveillance for both the patient and family members and to provide effective genetic advice in genetic counselling.n