Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.
Department of Diagnostic Pathology, Kobe University Hospital, Kobe 650-0017, Japan.
Endocr J. 2024 Jan 29;71(1):65-74. doi: 10.1507/endocrj.EJ23-0271. Epub 2023 Nov 11.
Pheochromocytomas and paragangliomas (PPGLs) are rare tumors that secrete catecholamines and arise from the adrenal medulla or extra-adrenal sympathetic ganglia. These tumors secrete adrenaline and noradrenaline, but paragangliomas usually produce only noradrenaline because of the lack of phenylethanolamine N-methyltransferase (PNMT) expression. Composite paragangliomas, which are complex tumors consisting of multiple types of neuroblastic cells, are extremely rare. We present the case of a 46-year-old woman with an atypical catecholamine profile who was preoperatively diagnosed with pheochromocytoma. However, postoperative pathology revealed that the patient had an extra-adrenal paraganglioma accompanied by a ganglioneuroma, which led to the diagnosis of a composite tumor. Interestingly, PNMT is expressed in both paragangliomas and ganglioneuromas. In addition, we reviewed reported composite paragangliomas and compared their clinical features with those of composite pheochromocytomas. We also discuss various aspects of the etiology of composite paragangliomas and the mechanism by which PNMT is expressed in tumors.
嗜铬细胞瘤和副神经节瘤(PPGL)是罕见的分泌儿茶酚胺的肿瘤,起源于肾上腺髓质或肾上腺外交感神经节。这些肿瘤分泌肾上腺素和去甲肾上腺素,但由于缺乏苯乙醇胺 N-甲基转移酶(PNMT)的表达,副神经节瘤通常只产生去甲肾上腺素。复合副神经节瘤是由多种神经母细胞类型组成的复杂肿瘤,极为罕见。我们报告了一例 46 岁女性,其儿茶酚胺谱不典型,术前诊断为嗜铬细胞瘤。然而,术后病理显示患者患有肾上腺外副神经节瘤伴神经节细胞瘤,最终诊断为复合肿瘤。有趣的是,PNMT 在副神经节瘤和神经节瘤中均有表达。此外,我们复习了报道的复合副神经节瘤,并将其临床特征与复合嗜铬细胞瘤进行了比较。我们还讨论了复合副神经节瘤的病因学和 PNMT 在肿瘤中表达的机制的各个方面。