Department of Medicine, Division of Endocrinology, Metabolism and Diabetes, Division of Biomedical Informatics and Personalized Medicine, University of Colorado School of Medicine, 12801 E. 17th Ave, MS 8106, Aurora, CO, 80045, USA.
Curr Cardiol Rep. 2019 Jul 31;21(9):104. doi: 10.1007/s11886-019-1184-y.
Pheochromocytomas and paragangliomas (PCC/PGL) are neuroendocrine tumors of the adrenal medulla and extra-adrenal ganglia which often over-secrete catecholamines leading to cardiovascular morbidity and even mortality. These unique tumors have the highest heritability of all solid tumor types with up to 35-40% of patients with PCC/PGL having a germline predisposition. PURPOSE OF REVIEW: To review the germline susceptibility genes and clinical syndromes associated with PCC/PGL. RECENT FINDINGS: There are over 12 PCC/PGL susceptibility genes identified in a wide range of pathways. Each gene is associated with a clinical syndrome with varying penetrance for both primary and metastatic PCC/PGL and often includes increased risk for additional tumors besides PCC/PGL. Patients with sporadic or hereditary PCC/PGL should be monitored for life given the risk of multiple primary tumors, recurrence, and metastatic disease. All patients with PCC/PGL should be referred for consideration for clinical genetic testing given the high heritability of disease.
嗜铬细胞瘤和副神经节瘤（PCC/PGL）是肾上腺髓质和肾上腺外神经节的神经内分泌肿瘤，它们常常过度分泌儿茶酚胺，导致心血管发病率，甚至死亡率。这些独特的肿瘤是所有实体肿瘤类型中遗传性最高的，高达 35-40%的 PCC/PGL 患者存在种系易感性。
综述与 PCC/PGL 相关的种系易感性基因和临床综合征。
已在多种途径中鉴定出超过 12 个 PCC/PGL 易感性基因。每个基因都与一种临床综合征相关，无论是原发性还是转移性 PCC/PGL，其外显率都存在差异，并且除了 PCC/PGL 之外，通常还包括发生其他肿瘤的风险增加。
鉴于多发原发性肿瘤、复发和转移性疾病的风险，散发性或遗传性 PCC/PGL 患者应终身监测。鉴于疾病的高遗传性，所有 PCC/PGL 患者均应考虑进行临床遗传检测。
