Pheochromocytoma and paraganglioma: germline genetics and hereditary syndromes.
Pheochromocytoma and paraganglioma: germline genetics and hereditary syndromes.
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DOI：
10.1530/eo-22-0044
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发表时间：
2022-01
期刊：
影响因子：
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通讯作者：
Fishbein, Lauren
中科院分区：
文献类型：
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作者：
Turin, Christie G;Crenshaw, Molly M;Fishbein, Lauren
嗜铬细胞瘤（PCC）和副神经节瘤（PGL）分别是起源于肾上腺髓质和肾上腺外神经节的神经内分泌肿瘤。大约15-25%的PCC/PGL可以转移。高达30-40%的PCC/PGL患者在已知的PCC/PGL易感基因中存在生殖系致病性变异;因此，所有PCC/PGL患者都应接受临床基因检测。大多数易感基因与PCC/PGL的可变突变率相关，并与不同的综合征相关，包括对其他肿瘤和病症的易感性。本文综述了PCC/PGL的生殖系易感基因、相关的临床综合征和推荐的监测方法。
Pheochromocytomas (PCCs) and paragangliomas (PGLs) are neuroendocrine tumors arising from the adrenal medulla and extra-adrenal ganglia, respectively. Approximately 15–25% of PCC/PGL can become metastatic. Up to 30–40% of patients with PCC/PGL have a germline pathogenic variant in a known susceptibility gene for PCC/PGL; therefore, all patients with PCC/PGL should undergo clinical genetic testing. Most of the susceptibility genes are associated with variable penetrance for PCC/PGL and are associated with different syndromes, which include susceptibility for other tumors and conditions. The objective of this review is to provide an overview of the germline susceptibility genes for PCC/PGL, the associated clinical syndromes, and recommended surveillance.