PDF(Pubmed)
Abstract：
: Phaeochromocytoma and paraganglioma (PPGL) are chromaffin cell tumours that require timely diagnosis because of their potentially serious cardiovascular and sometimes life- threatening sequelae. Tremendous progress in biochemical testing, imaging, genetics and pathophysiological understanding of the tumours has far-reaching implications for physicians dealing with hypertension and more importantly affected patients. Because hypertension is a classical clinical clue for PPGL, physicians involved in hypertension care are those who are often the first to consider this diagnosis. However, there have been profound changes in how PPGLs are discovered; this is often now based on incidental findings of adrenal or other masses during imaging and increasingly during surveillance based on rapidly emerging new hereditary causes of PPGL. We therefore address the relevant genetic causes of PPGLs and outline how genetic testing can be incorporated within clinical care. In addition to conventional imaging (computed tomography, MRI), new functional imaging approaches are evaluated. The novel knowledge of genotype-phenotype relationships, linking distinct genetic causes of disease to clinical behaviour and biochemical phenotype, provides the rationale for patient-tailored strategies for diagnosis, follow-up and surveillance. Most appropriate preoperative evaluation and preparation of patients are reviewed, as is minimally invasive surgery. Finally, we discuss risk factors for developing metastatic disease and how they may facilitate personalised follow-up. Experts from the European Society of Hypertension have prepared this position document that summarizes the current knowledge in epidemiology, genetics, diagnosis, treatment and surveillance of PPGL.
摘要：
嗜铬细胞瘤和副神经节瘤（PPGL）是嗜铬细胞瘤，需要及时诊断，因为它们有潜在的严重心血管疾病，有时甚至危及生命的后遗症。生化检测的巨大进展，成像,对肿瘤的遗传学和病理生理学理解对治疗高血压的医生以及更重要的影响患者具有深远的意义.因为高血压是PPGL的经典临床线索，参与高血压治疗的医生通常是最先考虑这种诊断的人.然而,发现PPGL的方式发生了深刻的变化;现在,这通常是基于在影像学过程中偶然发现的肾上腺或其他肿块,而在监测过程中,则基于迅速出现的PPGL新的遗传原因而日益增多.因此，我们解决了PPGL的相关遗传原因，并概述了如何将基因检测纳入临床护理。除了常规成像（计算机断层扫描，MRI),评估了新的功能成像方法。基因型-表型关系的新知识，将疾病的不同遗传原因与临床行为和生化表型联系起来，提供了为患者量身定制的诊断策略的基本原理，跟踪和监视。对患者进行最合适的术前评估和准备。微创手术也是如此。最后,我们讨论了发生转移性疾病的危险因素,以及它们如何促进个性化随访.欧洲高血压学会的专家准备了这份立场文件，总结了流行病学方面的最新知识，遗传学,诊断,PPGL的治疗和监测。
