Tufton Nicola, Sahdev Anju, Akker Scott A
Department of Endocrinology, St. Bartholomew's Hospital, Barts Health National Health Service Trust, West Smithfield, London EC1A 7BE, United Kingdom.
Centre for Endocrinology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1A 6QM, United Kingdom.
J Endocr Soc. 2017 Jun 6;1(7):897-907. doi: 10.1210/js.2017-00230. eCollection 2017 Jul 1.
There has been a significant increase in the availability of testing for pheochromocytoma and paraganglioma (PPGL) germline susceptibility genes. As more patients with genetic mutations are identified, cascade genetic testing of family members is also increasing. This results in identifying genetic predispositions at a much earlier age. With our current understanding of familial PPGL syndromes, lifelong surveillance is required. This review focuses on carriers of succinate dehydrogenase () mutations. For genetic testing to be proven worthwhile, the results must be used for patient benefit. For mutations, this should equate to a surveillance program that is safe and removes as much uncertainty around diagnosis as possible. Early identification of these tumors is the goal of any surveillance program, as surgical resection is the mainstay of treatment with curative intent to prevent the morbidity and mortality consequences associated with catecholamine excess, in addition to the risk of malignancy. Modality and frequency of surveillance imaging and how to engage individuals in the process of surveillance remain controversial questions. The data reviewed here and the cumulative advice supports the avoidance of using radiation-exposing imaging in this group of individuals that require lifelong screening.
嗜铬细胞瘤和副神经节瘤（PPGL）种系易感性基因检测的可及性有了显著提高。随着越来越多携带基因突变的患者被识别出来，对其家庭成员进行级联基因检测的情况也在增加。这使得在更早的年龄就能确定遗传易感性。基于我们目前对家族性PPGL综合征的认识，需要进行终身监测。本综述聚焦于琥珀酸脱氢酶（）突变携带者。要证明基因检测是值得的，检测结果必须用于患者受益。对于突变而言，这应等同于一个安全的监测项目，并尽可能消除诊断方面的不确定性。早期发现这些肿瘤是任何监测项目的目标，因为手术切除是具有治愈意图的主要治疗手段，可预防与儿茶酚胺过量相关的发病和死亡后果，以及恶性肿瘤风险。监测成像的方式和频率以及如何让个体参与监测过程仍然是有争议的问题。此处回顾的数据和累积建议支持在这组需要终身筛查的个体中避免使用有辐射暴露的成像检查。
