Cornu E, Belmihoub I, Burnichon N, Grataloup C, Zinzindohoué F, Baron S, Billaud E, Azizi M, Gimenez-Roqueplo A-P, Amar L
Unité d'hypertension artérielle, Centre de référence des maladies rares de la surrénale, université de Paris, hôpital européen Georges-Pompidou, AP-HP, 75015 Paris, France.
Service de génétique, université de Paris, hôpital européen Georges-Pompidou, AP-HP, 75015 Paris, France; PARCC, Inserm UMR_970, équipe génétique et métabolisme des cancers rares, université de Paris, 75015 Paris, France.
Rev Med Interne. 2019 Nov;40(11):733-741. doi: 10.1016/j.revmed.2019.07.008. Epub 2019 Sep 4.
Phaeochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumors that arise from the adrenal medulla or sympathetic and parasympathetic ganglia. These tumors produce most often catecholamines in excess, causing hypertension and sometimes severe acute cardiovascular complications. The diagnosis is based on plasma or urines metanephrines measurements and on conventional and nuclear medicine imaging. Catecholamines-producing PPGL is very unlikely if levels are normal. The diagnosis of PPGL cannot be made without visualization of a tumor. Therapeutic management consists mostly of surgical excision, after drug preparation, and should be done in referral centers. About 40% of pheochromocytomas and paragangliomas occur in the context of an autosomal inherited syndrome, making genetic testing essential. The follow-up must be prolonged because a metastatic evolution or a recurrence can be observed in about 15% of the cases.
嗜铬细胞瘤和副神经节瘤（PPGL）是罕见的神经内分泌肿瘤，起源于肾上腺髓质或交感和副交感神经节。这些肿瘤最常分泌过量的儿茶酚胺，导致高血压，有时还会引发严重的急性心血管并发症。诊断基于血浆或尿液中甲肾上腺素的测量以及传统和核医学成像。如果水平正常，产生儿茶酚胺的PPGL可能性极小。没有肿瘤可视化就无法做出PPGL的诊断。治疗管理主要包括在药物准备后进行手术切除，且应在转诊中心进行。约40%的嗜铬细胞瘤和副神经节瘤发生在常染色体遗传综合征的背景下，因此基因检测至关重要。随访必须延长，因为约15%的病例可能会出现转移进展或复发。
