Division of Endocrinology and Metabolism, Department of Medicine, McMaster University, Hamilton, Ontario, Canada.
Division of Endocrinology and Metabolism, Department of Medicine, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
Endocr Relat Cancer. 2024 Oct 14;31(11). doi: 10.1530/ERC-24-0029. Print 2024 Nov 1.
Adrenocorticotropic hormone-producing pheochromocytomas/paragangliomas are rare neuroendocrine tumors that co-secrete excess catecholamines and adrenocorticotropic hormone, resulting in Cushing syndrome (CS). This review aims to summarize important patient characteristics, investigations, and outcomes in all cases reported in the English literature. A literature search was conducted to identify all English-language case reports and case series describing adrenocorticotropic hormone-producing pheochromocytomas/paragangliomas. Relevant characteristics were systematically recorded. Cases that did not provide definitive evidence of an adrenocorticotropin (ACTH)-producing pheochromocytoma/paraganglioma were excluded. Our search strategy identified 93 published cases that met the inclusion criteria. We additionally reported one patient for a total of 94 cases. Details related to patient characteristics, laboratory data, and outcomes were commonly underreported. The median age was 47 years, and females accounted for 72% of cases. A cushingoid appearance was reported in 82% of patients, and hypertension in 86%. Infections were reported in 23% of patients. Urinary metanephrines were elevated at least three-fold above normal in 74% of cases. ACTH levels were high in 88% of patients and inappropriately normal in 12%. The median 24-hour urinary cortisol was 21-fold the upper limit of normal. Adrenalectomy was performed in nearly all patients, with 88% achieving a cure for both catecholamine and glucocorticoid excess. A total of 11 patients died. Metastases were uncommon (6%). Adrenocorticotropic hormone-producing pheochromocytomas/paragangliomas are associated with considerable morbidity and mortality. It should be considered in the diagnostic workup of all patients with ectopic CS. Surgical cure is achieved in most patients, and infections are the leading cause of peri-operative mortality.
促肾上腺皮质激素（ACTH）分泌型嗜铬细胞瘤/副神经节瘤是罕见的神经内分泌肿瘤，其共同特征是过度分泌儿茶酚胺和促肾上腺皮质激素（ACTH），导致库欣综合征（CS）。本综述旨在总结所有英文文献报道的病例中重要的患者特征、检查和结果。通过文献检索，我们确定了所有描述 ACTH 分泌型嗜铬细胞瘤/副神经节瘤的英文病例报告和病例系列。我们系统地记录了相关特征。排除了那些未提供 ACTH 分泌型嗜铬细胞瘤/副神经节瘤明确证据的病例。我们的检索策略共确定了 93 例符合纳入标准的已发表病例。我们还报告了 1 例患者，总计 94 例。患者特征、实验室数据和结局的详细信息通常报道不足。患者的中位年龄为 47 岁，女性占 72%。82%的患者有库欣样外观，86%的患者有高血压。23%的患者发生感染。74%的病例至少有 3 倍以上的尿间甲肾上腺素升高。88%的患者 ACTH 水平升高，12%的患者 ACTH 水平不适当正常。中位 24 小时尿皮质醇是正常值的 21 倍。几乎所有患者均行肾上腺切除术，88%的患者实现了儿茶酚胺和糖皮质激素过度分泌的治愈。共有 11 例患者死亡。转移并不常见（6%）。ACTH 分泌型嗜铬细胞瘤/副神经节瘤与相当大的发病率和死亡率相关。在所有异位 CS 患者的诊断中都应考虑到这一点。大多数患者通过手术治愈，感染是围手术期死亡的主要原因。
